IFN-gamma is critical in the immune response to mycobacterial infections, and deficits in IFN-gamma production and response have been associated with disseminated nontuberculous mycobacterial infections. Mutations in the IFN-gamma receptor ligand-binding chain (IFNgammaR1) have been shown to confer susceptibility to severe infection with nontuberculous mycobacteria. However, mutations in the IFN-gamma receptor signal-transducing chain (IFNgammaR2) have not been described. We describe a child with disseminated Mycobacterium fortuitum and M. avium complex infections and absent IFN-gamma signaling due to a mutation in the extracellular domain of IFNgammaR2. In vitro cytokine production by patient PBMCs showed 75% less PHA-induced IFN-gamma production than in normal cells, while patient PHA-induced TNF-alpha production was normal. The normal augmentation of TNF-alpha production when IFN-gamma was added to endotoxin was absent from patient cells. Expression of IFNgammaR1 was normal, but there was no phosphorylation of Stat1 in response to IFN-gamma stimulation. DNA sequence analysis of the gene for IFNgammaR2 showed a homozygous dinucleotide deletion at nucleotides 278 and 279, resulting in a premature stop codon in the protein extracellular domain. This novel gene defect associated with disseminated nontuberculous mycobacterial infection emphasizes the critical role that IFN-gamma plays in host defense against mycobacteria.
S E Dorman, S M Holland
Title and authors | Publication | Year |
---|---|---|
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
Rosain J, Kiykim A, Michev A, Kendir-Demirkol Y, Rinchai D, Peel JN, Li H, Ocak S, Ozdemir PG, Le Voyer T, Philippot Q, Khan T, Neehus AL, Migaud M, Soudée C, Boisson-Dupuis S, Marr N, Borghesi A, Casanova JL, Bustamante J |
Journal of Clinical Immunology | 2024 |
Deregulation of interferon-gamma receptor 1 expression and its implications for lung adenocarcinoma progression
Tecalco-Cruz AC, Medina-Abreu KH, Oropeza-Martínez E, Zepeda-Cervantes J, Vázquez-Macías A, Macías-Silva M |
World journal of clinical oncology | 2024 |
Genetic, Immunological, and Clinical Features of 830 Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD): A Systematic Review
Khavandegar A, Mahdaviani SA, Zaki-Dizaji M, Khalili-Moghaddam F, Ansari S, Alijani S, Taherzadeh-Ghahfarrokhi N, Mansouri D, Casanova JL, Bustamante J, Jamee M |
The Journal of allergy and clinical immunology | 2024 |
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz ME, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L\u2019Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J |
Cell | 2023 |
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria
Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani A, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, Lévy R, Le Voyer T, Zhang P, Renkilaraj MR, Arango-Franco CA, Pelham S, Seeleuthner Y, Pochon M, Ata MM, Ali FA, Migaud M, Soudée C, Kochetkov T, Molitor A, Carapito R, Bahram S, Boisson B, Fieschi C, Mansouri D, Marr N, Okada S, Shahrooei M, Parvaneh N, Chavoshzadeh Z, Cobat A, Bogunovic D, Abel L, Tangye S, Ma CS, Béziat V, Sallusto F, Boisson-Dupuis S, Bustamante J, Casanova JL, Puel A |
Science Immunology | 2023 |
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Franco CA, Le Voyer T, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagaric I, Materna M, Gervais A, Li H, Rosain J, Peel J, Seeleuthner Y, Han JE, L\u2019Honneur AS, Moncada-Vélez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Harri S, ElGhazali G, Yatim A, Soudée C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Béziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL |
Cell | 2023 |
Human autoantibodies underlying infectious diseases
A Puel, P Bastard, J Bustamante, J Casanova |
Journal of Experimental Medicine | 2022 |
STAT1 and Its Crucial Role in the Control of Viral Infections.
Tolomeo M, Cavalli A, Cascio A |
International journal of molecular sciences | 2022 |
Vaccine Protection of Mice With Primary Immunodeficiencies Against Disseminated Coccidioidomycosis.
Powell DA, Hsu AP, Butkiewicz CD, Trinh HT, Frelinger JA, Holland SM, Galgiani JN, Shubitz LF |
Frontiers in Cellular and Infection Microbiology | 2022 |
Role of Interferons in Mycobacterium tuberculosis Infection.
Shanmuganathan G, Orujyan D, Narinyan W, Poladian N, Dhama S, Parthasarathy A, Ha A, Tran D, Velpuri P, Nguyen KH, Venketaraman V |
Clinics and Practice | 2022 |
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.
Lyra PT, Souza E, Moura ACA, Matta MC, Torres LC, Coelho AVC, Rocha MÂW, Arraes L, Oliveira JB |
Journal of Clinical Immunology | 2022 |
IFNγ regulates NAD+ metabolism to promote the respiratory burst in human monocytes.
McCann KJ, Christensen SM, Colby DH, McGuire PJ, Myles IA, Zerbe CS, Dalgard CL, Sukumar G, Leonard WJ, McCormick BA, Holland SM |
Blood Advances | 2022 |
An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China
Xia L, Liu XH, Yuan Y, Lowrie DB, Fan XY, Li T, Hu ZD, Lu SH |
Frontiers in immunology | 2022 |
Metabolic Regulation of Immune Responses to Mycobacterium tuberculosis: A Spotlight on L-Arginine and L-Tryptophan Metabolism
RR Crowther, JE Qualls |
Frontiers in immunology | 2021 |
Post‐transcriptional control of T‐cell cytokine production: Implications for cancer therapy
JJ Heeren |
Immunology | 2021 |
Type I and II interferons toward ideal vaccine and immunotherapy
B Temizoz, KJ Ishii |
Expert Review of Vaccines | 2021 |
Warm, Sweetened Milk at the Twilight of Immunity - Alzheimer’s Disease - Inflammaging, Insulin Resistance, M. paratuberculosis and Immunosenescence
CT Dow |
Frontiers in immunology | 2021 |
Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa
A van Coller, B Glanzmann, H Cornelissen, M Möller, C Kinnear, M Esser, R Glashoff |
BMC Immunology | 2021 |
The role of the X chromosome in infectious diseases
M Hay, V Kumar, I Ricaño-Ponce |
Briefings in Functional Genomics | 2021 |
Inherited human IFN-g deficiency underlies mycobacterial disease
Gaspard Kerner, Jérémie Rosain, Antoine Guérin, Ahmad AlKhabaz, Carmen Oleaga-Quintas, Franck Rapaport, Michel J. Massaad, Jing-Ya Ding, Taushif Khan, Fatima Al Ali, Mahbuba Rahman, Caroline Deswarte, Ruben Martinez-Barricarte, Raif S. Geha, Valentine Jeanne-Julien, Diane S. T. Garcia, Chih-Yu Chi, Rui Yang, Manon Roynard, Bernhard Fleckenstein, Flore Rozenberg, Stéphanie Boisson-Dupuis, Cheng-Lung Ku, Yoann Seeleuthner, Vivien Beziat, Nico Marr, Laurent Abel, Waleed Al-Herz, Jean-Laurent Casanova, Jacinta Bustamante |
Journal of Clinical Investigation | 2020 |
Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?
CL Ku, CY Chi, H von Bernuth, R Doffinger |
Human Genetics | 2020 |
Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations
S Jung, V Gies, AS Korganow, A Guffroy |
Frontiers in immunology | 2020 |
Human T cells employ conserved AU‐rich elements to fine‐tune IFN‐γ production
JJ Heeren, B Popović, A Guislain, MC Wolkers |
European Journal of Immunology | 2020 |
Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review
PA Tovo, S Garazzino, F Saglio, C Scolfaro, J Bustamante, R Badolato, F Fagioli |
Journal of Clinical Immunology | 2020 |
Iron in infection and immunity
M Nairz, G Weiss |
Molecular Aspects of Medicine | 2020 |
Serum Krebs von den Lungen‐6 level in the disease progression and treatment of Mycobacterium avium complex lung disease
T Asakura, Y Kimizuka, T Nishimura, S Suzuki, H Namkoong, Y Masugi, Y Sato, M Ishii, N Hasegawa |
Respirology (Carlton, Vic.) | 2020 |
Immunology of Mycobacterium tuberculosis Infections
JK Sia, J Rengarajan |
Microbiology spectrum | 2019 |
Genetic susceptibility to Tuberculosis: Interaction between HLA-DQA1 and age of onset
NL Tang, X Wang, KC Chang, C Chan, NW Szeto, D Huang, J Wu, GC Lui, CC Leung, M Hui |
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2019 |
A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases
AK Bandari, B Muthusamy, S Bhat, P Govindaraj, P Rajagopalan, A Dalvi, S Shankar, R Raja, KS Reddy, M Madkaikar, A Pandey |
Frontiers in immunology | 2019 |
Pediatric Immunology: A Case-Based Collection with MCQs, Volume 2
N Rezaei |
2019 | |
Gram-Positive Pathogens
VA Fischetti, RP Novick, JJ Ferretti, DA Portnoy, M Braunstein, JI Rood |
2019 | |
Dominant negative IKZF1 mutations cause a T-, B- and myeloid-cell combined immunodeficiency
David Boutboul, Hye Sun Kuehn, Zoe Van de Wyngaert, Julie E. Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, vahid asnafi, Philip Roehrs, Shaoying Chen, James Verbsky, Katherine Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleasman, Amy Hsu, Steven Holland, Rebecca Marsh, Alain Fischer, Thomas Fleisher, Capucine Picard, Sylvain Latour, Sergio Rosenzweig |
Journal of Clinical Investigation | 2018 |
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
C Oleaga-Quintas, C Deswarte, M Moncada-Vélez, A Metin, IK Rao, S Kanık-Yüksek, A Nieto-Patlán, A Guérin, B Gülhan, S Murthy, A Özkaya-Parlakay, L Abel, R Martínez-Barricarte, RP de Diego, S Boisson-Dupuis, XF Kong, JL Casanova, J Bustamante |
Human Molecular Genetics | 2018 |
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease
A Esteve-Solé, I Sologuren, MT Martínez-Saavedra, À Deyà-Martínez, C Oleaga-Quintas, R Martinez-Barricarte, A Martin-Nalda, M Juan, JL Casanova, C Rodriguez-Gallego, L Alsina, J Bustamante |
Critical Reviews in Clinical Laboratory Sciences | 2018 |
The Child with Recurrent Mycobacterial Disease
B Reed, WK Dolen |
Current Allergy and Asthma Reports | 2018 |
Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities
B Glanzmann, C Uren, N de Villiers, A van Coller, RH Glashoff, M Urban, EG Hoal, MM Esser, M Möller, CJ Kinnear |
Genes and Immunity | 2018 |
HIV, HCMV and mycobacterial antibody levels: a cross-sectional study in a rural Ugandan cohort
L Stockdale, S Nash, A Nalwoga, L Gibson, H Painter, J Raynes, G Asiki, R Newton, H Fletcher |
Tropical medicine & international health : TM & IH | 2018 |
Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections
M Hetzel, A Mucci, P Blank, AH Nguyen, J Schiller, O Halle, MP Kühnel, S Billig, R Meineke, D Brand, V Herder, W Baumgärtner, FC Bange, R Goethe, D Jonigk, R Förster, B Gentner, JL Casanova, J Bustamante, A Schambach, U Kalinke, N Lachmann |
Blood | 2017 |
Tuberculosis and the Tubercle Bacillus, Second Edition
WR Jacobs, H McShane, V Mizrahi, IM Orme |
Tuberculosis and the Tubercle Bacillus, Second Edition | 2017 |
The Goldilocks model of immune symbiosis with Mycobacteria and Candida colonizers
RT Robinson, AR Huppler |
Cytokine | 2017 |
Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses
PP Lee, YL Lau |
Frontiers in immunology | 2017 |
Primary Immunodeficiency Diseases
AR Gennery, L Marodi, JB Ziegler, T Español, B Grimbacher |
Primary Immunodeficiency Diseases | 2017 |
A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases
M Ueki, M Yamada, K Ito, Y Tozawa, S Morino, Y Horikoshi, H Takada, SS Abdrabou, S Takezaki, I Kobayashi, T Ariga |
Clinical Immunology | 2017 |
Association of Interferon-γ Receptor-1 Gene Polymorphism with Nontuberculous Mycobacterial Lung Infection among Iranian Patients with Pulmonary Disease
P Farnia, AA Velayati, J Ghanavi, P Farnia, S Saif |
The American journal of tropical medicine and hygiene | 2017 |
Tuberculosis and the Tubercle Bacillus
WR Jacobs, H McShane, V Mizrahi, IM Orme |
Tuberculosis and the Tubercle Bacillus, Second Edition | 2017 |
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections
UI Wu, SM Holland |
Seminars in Immunopathology | 2016 |
‘”Why me, why now?” Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infection
MA Lake, LR Ambrose, MC Lipman, DM Lowe |
BMC Medicine | 2016 |
Altered signaling in systemic juvenile idiopathic arthritis monocytes
C Macaubas, E Wong, Y Zhang, KD Nguyen, J Lee, D Milojevic, S Shenoi, AM Stevens, N Ilowite, V Saper, T Lee, ED Mellins |
Clinical Immunology | 2016 |
Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation
CM Blouin, Y Hamon, P Gonnord, C Boularan, J Kagan, C Viaris de Lesegno, R Ruez, S Mailfert, N Bertaux, D Loew, C Wunder, L Johannes, G Vogt, FX Contreras, D Marguet, JL Casanova, C Galès, HT He, C Lamaze |
Cell | 2016 |
Immunity against Mycobacterium tuberculosis: Defense strategies
SM Rozov, NA Popova, EV Deineko |
Biology Bulletin Reviews | 2016 |
Deficient interleukin-17 production in response to Mycobacterium abscessus in cystic fibrosis
KL Becker, J van Ingen, J ten Oever, PJ Merkus, G Ferwerda, MG Netea, C Magis-Escurra, MH Reijers, FL van de Veerdonk |
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology | 2016 |
Mouse and primate lifespan is correlated with immunoproteasome expression
Andrew Pickering, Marcus Lehr, Richard A. Miller |
Journal of Clinical Investigation | 2015 |
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
S Boisson-Dupuis, J Bustamante, J El-Baghdadi, Y Camcioglu, N Parvaneh, SE Azbaoui, A Agader, A Hassani, NE Hafidi, NA Mrani, Z Jouhadi, F Ailal, J Najib, I Reisli, A Zamani, S Yosunkaya, S Gulle-Girit, A Yildiran, FE Cipe, SH Torun, A Metin, BY Atikan, N Hatipoglu, C Aydogmus, SS Kilic, F Dogu, N Karaca, G Aksu, N Kutukculer, M Keser-Emiroglu, A Somer, G Tanir, C Aytekin, P Adimi, SA Mahdaviani, S Mamishi, A Bousfiha, O Sanal, D Mansouri, JL Casanova, L Abel |
Immunological Reviews | 2015 |
Paradox of autoantibodies and immune deficiency: Interferon gamma antibodies and susceptibility to intracellular pathogens
S Sehgal, D Suri |
Indian Journal of Medical Microbiology | 2015 |
Host susceptibility to non-tuberculous mycobacterial infections
UI Wu, SM Holland |
The Lancet Infectious Diseases | 2015 |
Kinomics: Approaches and Applications
R Arsenault, B Trost, A Kusalik, S Napper |
Kinomics: Approaches and Applications | 2015 |
Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
J Bustamante, S Boisson-Dupuis, L Abel, JL Casanova |
Seminars in Immunology | 2014 |
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
JL Casanova, ME Conley, SJ Seligman, L Abel, LD Notarangelo |
Journal of Experimental Medicine | 2014 |
Mycobacterium tuberculosis Decreases Human Macrophage IFN-γ Responsiveness through miR-132 and miR-26a
B Ni, MV Rajaram, WP Lafuse, MB Landes, LS Schlesinger |
Journal of immunology (Baltimore, Md. : 1950) | 2014 |
Innate Defects of the IL-12/IFN-γ Axis in Susceptibility to Infections by Mycobacteria and Salmonella
N Ramirez-Alejo, L Santos-Argumedo |
Journal of Interferon & Cytokine Research | 2014 |
From mouth to macrophage: mechanisms of innate immune subversion by Mycobacterium avium subsp. paratuberculosis
RJ Arsenault, P Maattanen, J Daigle, A Potter, P Griebel, S Napper |
Veterinary Research | 2014 |
Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS): Attenuated cytokine production in CAPS patients
MH Haverkamp, E de Vosse, R Goldbach-Mansky, SM Holland |
Clinical & Experimental Immunology | 2014 |
Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency
R Martínez-Barricarte, O Megged, P Stepensky, P Casimir, M Moncada-Velez, D Averbuch, MV Assous, O Abuzaitoun, XF Kong, V Pedergnana, C Deswarte, M Migaud, S Rose-John, Y Itan, B Boisson, A Belkadi, F Conti, L Abel, G Vogt, S Boisson-Dupuis, JL Casanova, J Bustamante |
Journal of Clinical Immunology | 2014 |
Eggshell pigmentation has no evident effects on offspring viability in common kestrels
JA Fargallo, I López-Rull, I Mikšík, A Eckhardt, JM Peralta-Sánchez |
Evolutionary Ecology | 2014 |
Nontuberculous mycobacterial infections in children with inborn errors of the immune system
MH Haverkamp, E de Vosse, JT van Dissel |
Journal of Infection | 2014 |
Stiehm's Immune Deficiencies
H Yarmohammadi |
Stiehm's Immune Deficiencies | 2014 |
Reference Module in Biomedical Sciences
DL Sackett, RB Haynes |
2014 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
The New Paradigm of Immunity to Tuberculosis
M Divangahi |
2013 | |
ISG15: leading a double life as a secreted molecule
D Bogunovic, S Boisson-Dupuis, JL Casanova |
Experimental & molecular medicine | 2013 |
Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling
HI Bax, AF Freeman, L Ding, AP Hsu, B Marciano, E Kristosturyan, T Jancel, C Spalding, J Pechacek, KN Olivier, LA Barnhart, L Boris, C Frein, RJ Claypool, V Anderson, CS Zerbe, SM Holland, EP Sampaio |
Journal of Clinical Immunology | 2013 |
Gamma Interferon Receptor Defect Presenting as Recurrent Tuberculosis
B Sundaram, S Amperayani, K Dhanalakshmi, S Padmanaban |
The Indian Journal of Pediatrics | 2013 |
Emery and Rimoin's Principles and Practice of Medical Genetics
DC Wallace, MT Lott, V Procaccio |
Emery and Rimoin's Principles and Practice of Medical Genetics | 2013 |
Influence of Intron II microsatellite polymorphism in human toll-like receptor 2 gene in leprosy
NC Suryadevara, VS Neela, KP Devalraju, S Jain, KS SivaSai, VL Valluri, S Jonnalagada, MP Anandaraj |
Human Immunology | 2013 |
Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
M Moncada-Velez, R Martinez-Barricarte, D Bogunovic, XF Kong, L Blancas-Galicia, C Tirpan, G Aksu, QB Vincent, B Boisson, Y Itan, N Ramirez-Alejo, S Okada, AY Kreins, VL Bryant, JL Franco, M Migaud, S Espinosa-Padilla, M Yamazaki-Nakashimada, F Espinosa-Rosales, N Kutukculer, L Abel, J Bustamante, G Vogt, JL Casanova, S Boisson-Dupuis |
Blood | 2013 |
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
M Tsumura, S Okada, H Sakai, S Yasunaga, M Ohtsubo, T Murata, H Obata, T Yasumi, XF Kong, A Abhyankar, T Heike, T Nakahata, R Nishikomori, S Al-Muhsen, S Boisson-Dupuis, JL Casanova, M AlZahrani, MA Shehri, G ElGhazali, Y Takihara, M Kobayashi |
Human Mutation | 2012 |
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
XF Kong, G Vogt, Y Itan, A Macura-Biegun, A Szaflarska, D Kowalczyk, A Chapgier, A Abhyankar, D Furthner, CD Khayat, S Okada, VL Bryant, D Bogunovic, A Kreins, M Moncada-Velez, M Migaud, S Al-Ajaji, S Al-Muhsen, SM Holland, L Abel, C Picard, D Chaussabel, J Bustamante, JL Casanova, S Boisson-Dupuis |
Human Molecular Genetics | 2012 |
Placental malaria is associated with attenuated CD4 T-cell responses to tuberculin PPD 12 months after BCG vaccination
B Walther, DJ Miles, P Waight, MS Palmero, O Ojuola, ES Touray, H Whittle, M der Sande, S Crozier, KL Flanagan |
BMC Infectious Diseases | 2012 |
Modulation of Innate Host Factors by Mycobacterium avium Complex in Human Macrophages Includes Interleukin 17
N Vazquez, S Rekka, M Gliozzi, CG Feng, S Amarnath, JM Orenstein, SM Wahl |
The Journal of Infectious Diseases | 2012 |
Human Genetic Susceptibility to Tuberculosis: Time for a Bottom-Up Approach?
RJ Wilkinson |
The Journal of Infectious Diseases | 2012 |
Roles of Salmonella enterica serovar Typhimurium encoded Peptidase N during systemic infection of Ifnγ−/− mice
M Bhosale, JC Kadthur, D Nandi |
Immunobiology | 2012 |
A Systematic Approach for Analysis of Peptide Array Kinome Data
Y Li, RJ Arsenault, B Trost, J Slind, PJ Griebel, S Napper, A Kusalik |
Science signaling | 2012 |
The mechanism of redox sensing in Mycobacterium tuberculosis
SA Bhat, N Singh, A Trivedi, P Kansal, P Gupta, A Kumar |
Free radical biology & medicine | 2012 |
Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency
SS Kilic, A Wengen, RA de Paus, S Celebi, B Meziane, D Hafizoglu, JT van Dissel, E de Vosse |
Journal of Infection | 2012 |
Identification of (+)-erythro-mefloquine as an active enantiomer with greater efficacy than mefloquine against Mycobacterium avium infection in mice
LE Bermudez, CB Inderlied, P Kolonoski, CB Chee, P Aralar, M Petrofsky, T Parman, CE Green, AH Lewin, WY Ellis, LS Young |
Antimicrobial agents and chemotherapy | 2012 |
Mycobacterium avium subsp. paratuberculosis Inhibits Gamma Interferon-Induced Signaling in Bovine Monocytes: Insights into the Cellular Mechanisms of Johne's Disease
RJ Arsenault, Y Li, K Bell, K Doig, A Potter, PJ Griebel, A Kusalik, S Napper, JL Flynn |
Infection and immunity | 2012 |
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases
J Bustamante, C Picard, S Boisson-Dupuis, L Abel, JL Casanova |
Annals of the New York Academy of Sciences | 2011 |
The in vivo immunomodulatory effect of recombinant tumour necrosis factor-alpha in guinea pigs vaccinated with Mycobacterium bovis bacille Calmette–Guérin
JC Kramp, DN McMurray, C Formichella, A Jeevan |
Clinical & Experimental Immunology | 2011 |
The role of IL-10 in immune regulation during M. tuberculosis infection
PS Redford, PJ Murray, A O'Garra |
Mucosal Immunology | 2011 |
Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan
T Hoshina, H Takada, Y Sasaki-Mihara, K Kusuhara, K Ohshima, S Okada, M Kobayashi, O Ohara, T Hara |
Journal of Clinical Immunology | 2011 |
Genome-wide association studies and susceptibility to infectious diseases
MJ Newport, C Finan |
Briefings in Functional Genomics and Proteomics | 2011 |
Combined IL-12 Receptor and IgA Deficiency in an Adult Man Intestinally Infested by an Unknown, Non-Cultivable Mycobacterium : Combined IL-12 Receptor and IgA Deficiency
L Schejbel, EM Rasmussen, HB Kemp, AC Lundstedt, KR Nielsen, N Obel, H Marquart, ÅB Andersen |
Scandinavian Journal of Immunology | 2011 |
Vitamin D Receptor Gene TaqI, BsmI and FokI Polymorphisms in Korean Patients with Tuberculosis
TJ Kang, SH Jin, CE Yeum, SB Lee, CH Kim, SH Lee, KH Kim, ES Shin, GT Chae |
Immune Network | 2011 |
Two cases illustrating successful adjunctive interferon-γ immunotherapy in refractory disseminated coccidioidomycosis
CA Duplessis, D Tilley, M Bavaro, B Hale, SM Holland |
Journal of Infection | 2011 |
Tropical Infectious Diseases: Principles, Pathogens and Practice
TB Nutman, JW Kazura |
Tropical Infectious Diseases: Principles, Pathogens and Practice | 2011 |
Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to disease in pediatric tuberculosis
N Dalgic, D Tekin, Z Kayaalti, T Soylemezoglu, E Cakir, B Kilic, B Kutlubay, M Sancar, M Odabasi |
Human Immunology | 2011 |
Cloning of guinea pig IL-4: Reduced IL-4 mRNA after vaccination or Mycobacterium tuberculosis infection
A Jeevan, T Yoshimura, LH Ly, VR Dirisala, DN McMurray |
Tuberculosis | 2011 |
Antagonistic crosstalk between type I and II interferons and increased host susceptibility to bacterial infections
M Rayamajhi, J Humann, S Kearney, KK Hill, LL Lenz |
Virulence | 2010 |
Topley & Wilson's Microbiology and Microbial Infections
PM Pitha, MS Künzi |
Topley & Wilson's Microbiology and Microbial Infections | 2010 |
Mendelian susceptibility to mycobacterial disease
LE Cottle |
Clinical Genetics | 2010 |
Oral polio vaccine influences the immune response to BCG vaccination. A natural experiment
E Sartono, IM Lisse, EM Terveer, PJ van de Sande, H Whittle, AB Fisker, A Roth, P Aaby, M Yazdanbakhsh, CS Benn |
PloS one | 2010 |
Interferon-γ Regulates the Death of M. tuberculosis-Infected Macrophages
J Lee, H Kornfeld |
Journal of cell death | 2010 |
Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases
VG Fowler, WM Scheld, AS Bayer |
Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases | 2010 |
Methods in Microbiology
V Tchikov, J Fritsch, D Kabelitz, S Schütze |
Methods in Microbiology | 2010 |
A novel form of cell type-specific partial IFN- R1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
XF Kong, G Vogt, A Chapgier, C Lamaze, J Bustamante, C Prando, A Fortin, A Puel, J Feinberg, XX Zhang, P Gonnord, UM Pihkala-Saarinen, M Arola, P Moilanen, L Abel, M Korppi, S Boisson-Dupuis, JL Casanova |
Human Molecular Genetics | 2009 |
New microbicidal functions of tracheal glands: defective anti-infectious response to Pseudomonas aeruginosa in cystic fibrosis
S Bastonero, YL Priol, M Armand, CS Bernard, M Reynaud-Gaubert, D Olive, D Parzy, S Bentzmann, C Capo, JL Mege |
PloS one | 2009 |
Characterization and potential clinical applications of autoantibodies against cytokines
CL Rieper, P Galle, MB Hansen |
Cytokine & Growth Factor Reviews | 2009 |
Immundefekte mit selektiver Vulnerabilität für einzelne Erreger
V Schuster, H Bernuth |
Monatsschrift Kinderheilkunde | 2009 |
Pleural tuberculosis in patients with early HIV infection is associated with increased TNF-alpha expression and necrosis in granulomas
J Bezuidenhout, T Roberts, L Muller, P Helden, G Walzl |
PloS one | 2009 |
Expression of interferon-gamma and tumour necrosis factor-alpha messenger RNA does not correlate with protection in guinea pigs challenged with virulent Mycobacterium tuberculosis by the respiratory route
A Jeevan, DL Bonilla, DN McMurray |
Immunology | 2009 |
Recent Advances in Primary Immunodeficiencies: Identification of Novel Genetic Defects and Unanticipated Phenotypes
I Pessach, J Walter, LD Notarangelo |
Pediatric Research | 2009 |
New Microbicidal Functions of Tracheal Glands: Defective Anti-Infectious Response to Pseudomonas aeruginosa in Cystic Fibrosis
S Bastonero, YL Priol, M Armand, CS Bernard, M Reynaud-Gaubert, D Olive, D Parzy, S Bentzmann, C Capo, JL Mege, D Hartl |
PloS one | 2009 |
Pleural Tuberculosis in Patients with Early HIV Infection Is Associated with Increased TNF-Alpha Expression and Necrosis in Granulomas
J Bezuidenhout, T Roberts, L Muller, P Helden, G Walzl, B Marais |
PloS one | 2009 |
Phagocyte-Pathogen Interactions: Macrophages and the Host Response to Infection
DG Russell, S Gordon |
2009 | |
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
G Vogt, J Bustamante, A Chapgier, J Feinberg, SB Dupuis, C Picard, N Mahlaoui, L Gineau, A Alcaïs, C Lamaze, JM Puck, GS saint Basile, CD Khayat, R Mikhael, JL Casanova |
Journal of Experimental Medicine | 2008 |
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases
J Bustamante, S Boisson-Dupuis, E Jouanguy, C Picard, A Puel, L Abel, JL Casanova |
Current Opinion in Immunology | 2008 |
Effects of Antenatal and Postnatal Environments on CD4 T-Cell Responses to Mycobacterium bovis BCG in Healthy Infants in The Gambia
DJ Miles, M van der Sande, S Crozier, O Ojuola, MS Palmero, M Sanneh, ES Touray, S Rowland-Jones, H Whittle, M Ota, A Marchant |
Clinical and vaccine immunology : CVI | 2008 |
Primary Immunodeficiencies
|
2008 | |
The phagocytes: neutrophils and monocytes
DC Dale, L Boxer, WC Liles |
Blood | 2008 |
Clinical Immunology
DB Kuhns |
Clinical Immunology | 2008 |
Natural variation in immune responses to neonatal Mycobacterium bovis Bacillus Calmette-Guerin (BCG) Vaccination in a Cohort of Gambian infants
C Finan, MO Ota, A Marchant, MJ Newport |
PloS one | 2008 |
Genome scan of M. tuberculosis infection and disease in Ugandans
CM Stein, S Zalwango, LS Malone, S Won, H Mayanja-Kizza, RD Mugerwa, DV Leontiev, CL Thompson, KC Cartier, RC Elston, SK Iyengar, WH Boom, CC Whalen |
PloS one | 2008 |
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome
RD Kim, DE Greenberg, ME Ehrmantraut, SV Guide, L Ding, Y Shea, MR Brown, M Chernick, WK Steagall, CG Glasgow, JP Lin, C Jolley, L Sorbara, M Raffeld, S Hill, N Avila, V Sachdev, LA Barnhart, VL Anderson, R Claypool, DM Hilligoss, M Garofalo, A Fitzgerald, S Anaya-O'Brien, D Darnell, R DeCastro, HM Menning, SM Ricklefs, SF Porcella, KN Olivier, J Moss, SM Holland |
American journal of respiratory and critical care medicine | 2008 |
From Infectious Diseases to Primary Immunodeficiencies
J Bustamante, SY Zhang, H Bernuth, L Abel, JL Casanova |
Immunology and Allergy Clinics of North America | 2008 |
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
S Al-Muhsen, JL Casanova |
Journal of Allergy and Clinical Immunology | 2008 |
Biliary Cirrhosis in a Child with Inherited Interleukin-12 Deficiency
AS Pulickal, S Hambleton, MJ Callaghan, CE Moore, J Goulding, A Goodsall, R Baretto, DA Lammas, ST Anderson, M Levin, AJ Pollard |
Journal of Tropical Pediatrics | 2008 |
Chinese Patients with Defective IL-12/23-Interferon-γ Circuit in Taiwan: Partial Dominant Interferon-γ Receptor 1 Mutation Presenting as Cutaneous Granuloma and IL-12 Receptor β1 Mutation as Pneumatocele
WI Lee, JL Huang, TY Lin, C Hsueh, AM Wong, MY Hsieh, CH Chiu, TH Jaing |
Journal of Clinical Immunology | 2008 |
Genome Scan of M. tuberculosis Infection and Disease in Ugandans
CM Stein, S Zalwango, LS Malone, S Won, H Mayanja-Kizza, RD Mugerwa, DV Leontiev, CL Thompson, KC Cartier, RC Elston, SK Iyengar, WH Boom, CC Whalen, M Pai |
PloS one | 2008 |
Handbook of Tuberculosis
SH Kaufmann, E Rubin, WJ Britton, P Helden |
Handbook of Tuberculosis | 2008 |
Clinical and Immunologic Features of an Atypical Intracranial Mycobacterium avium Complex (MAC) Infection Compared with Those of Pulmonary MAC Infections
M Sadek, FY Yue, EY Lee, G Gyenes, RB Jones, V Hoffstein, DG Munoz, I Fong, M Ostrowski |
Clinical and vaccine immunology : CVI | 2008 |
Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies
G Pidoux, P Gerbaud, O Marpeau, J Guibourdenche, F Ferreira, J Badet, D Evain-Brion, JL Frendo |
Endocrinology | 2007 |
Human genetics of infectious diseases: a unified theory
JL Casanova, L Abel |
The EMBO Journal | 2007 |
Human primary immunodeficiencies of type I interferons
E Jouanguy, SY Zhang, A Chapgier, V Sancho-Shimizu, A Puel, C Picard, S Boisson-Dupuis, L Abel, JL Casanova |
Biochimie | 2007 |
Two Patients with Complete Defects in Interferon Gamma Receptor-Dependent Signaling
JG Noordzij, NG Hartwig, FA Verreck, SD Bruin-Versteeg, TD Boer, JT Dissel, RD Groot, TH Ottenhoff, JJ Dongen |
Journal of Clinical Immunology | 2007 |
IFN-γTherapy of Tuberculosis and Related Infections
R Reljic |
Journal of Interferon & Cytokine Research | 2007 |
Lung macrophages from bacille Calmette-Guérin-vaccinated guinea pigs suppress T cell proliferation but restrict intracellular growth of M. tuberculosis after recombinant guinea pig interferon-gamma activation
A Jeevan, K Majorov, K Sawant, H Cho, DN McMurray |
Clinical & Experimental Immunology | 2007 |
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction
S Okada, N Ishikawa, K Shirao, H Kawaguchi, M Tsumura, Y Ohno, S Yasunaga, M Ohtsubo, Y Takihara, M Kobayashi |
Journal of medical genetics | 2007 |
Host Genetics of Mycobacterial Diseases in Mice and Men: Forward Genetic Studies of BCG-osis and Tuberculosis
A Fortin, L Abel, JL Casanova, P Gros |
Annual Review of Genomics and Human Genetics | 2007 |
Tuberculosis
G Maartens, RJ Wilkinson |
The Lancet | 2007 |
Persistent bacterial infections and primary immune disorders
AF Freeman, SM Holland |
Current Opinion in Microbiology | 2007 |
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans
V Sancho-Shimizu, SY Zhang, L Abel, M Tardieu, F Rozenberg, E Jouanguy, JL Casanova |
Current Opinion in Allergy and Clinical Immunology | 2007 |
Microdissection of the cytokine milieu of pulmonary granulomas from tuberculous guinea pigs
LH Ly, MI Russell, DN McMurray |
Cellular Microbiology | 2007 |
Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-γ receptor 2 deficiency
AV Rapkiewicz, SY Patel, SM Holland, DE Kleiner |
Virchows Archiv | 2007 |
Interferon-γ gene+874T–A polymorphism is associated with tuberculosis and gamma interferon response
N Sallakcı, M Coskun, Z Berber, F Gürkan, H Kocamaz, G Uysal, S Bhuju, U Yavuzer, M Singh, O Yeğin |
Tuberculosis | 2007 |
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features
O Filipe-Santos, J Bustamante, A Chapgier, G Vogt, L Beaucoudrey, J Feinberg, E Jouanguy, S Boisson-Dupuis, C Fieschi, C Picard, JL Casanova |
Seminars in Immunology | 2006 |
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
O Filipe-Santos, J Bustamante, MH Haverkamp, E Vinolo, CL Ku, A Puel, DM Frucht, K Christel, H Bernuth, E Jouanguy, J Feinberg, A Durandy, B Senechal, A Chapgier, G Vogt, L Beaucoudrey, C Fieschi, C Picard, M Garfa, J Chemli, M Bejaoui, MN Tsolia, N Kutukculer, A Plebani, L Notarangelo, C Bodemer, F Geissmann, A Israël, M Véron, M Knackstedt, R Barbouche, L Abel, K Magdorf, D Gendrel, F Agou, SM Holland, JL Casanova |
Journal of Experimental Medicine | 2006 |
Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease
A Chapgier, S Boisson-Dupuis, E Jouanguy, G Vogt, J Feinberg, A Prochnicka-Chalufour, A Casrouge, K Yang, C Soudais, C Fieschi, OF Santos, J Bustamante, C Picard, L de Beaucoudrey, JF Emile, PD Arkwright, RD Schreiber, C Rolinck-Werninghaus, A Rösen-Wolff, K Magdorf, J Roesler, JL Casanova, V van Heyningen |
PLoS genetics | 2006 |
Lung Disease Due to the More Common Nontuberculous Mycobacteria
SK Field, RL Cowie |
Chest | 2006 |
IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan
MA Salih, ME Ibrahim, JM Blackwell, EN Miller, EA Khalil, AM ElHassan, AM Musa, HS Mohamed |
Genes and Immunity | 2006 |
Novel roles of osteopontin and CXC chemokine ligand 7 in the defence against mycobacterial infection
V Khajoee, M Saito, H Takada, A Nomura, K Kusuhara, SI Yoshida, Y Yoshikai, T Hara |
Clinical & Experimental Immunology | 2006 |
Production and characterization of guinea pig recombinant gamma interferon and its effect on macrophage activation
A Jeevan, CT McFarland, T Yoshimura, T Skwor, H Cho, T Lasco, DN McMurray |
Infection and immunity | 2006 |
Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis
F Serour, A Mizrahi, E Somekh, J Feinberg, C Picard, JL Casanova, I Dalal |
European Journal of Pediatrics | 2006 |
Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency
MN Tsolia, A Chapgier, P Taprantzi, M Servitzoglou, I Tassios, N Spyridis, F Papageorgiou, OF Santos, JL Casanova, P Spyridis |
European Journal of Pediatrics | 2006 |
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-γ-dependent signaling
MH Haverkamp, JT Dissel, SM Holland |
Microbes and Infection | 2006 |
Partial interferon-γ receptor deficiency and non-tuberculous mycobacterial lung disease
JH Hwang, WJ Koh, EJ Kim, EH Kang, GY Suh, MP Chung, H Kim, OJ Kwon |
Tuberculosis | 2006 |
Genetic susceptibility to mycobacterial disease in humans
SL Fernando, WJ Britton |
Immunology and Cell Biology | 2006 |
„Mendelian susceptibility to mycobacterial disease“
M Knackstedt, A Detjen, U Wahn, K Magdorf |
Monatsschrift Kinderheilkunde | 2006 |
Interleukin-10 promoter polymorphisms in giant cell arteritis
L Boiardi, B Casali, E Farnetti, N Pipitone, D Nicoli, PL Macchioni, L Cimino, GL Bajocchi, MG Catanoso, L Pattacini, C Salvarani |
Arthritis & Rheumatism | 2006 |
Cutaneous leukocytoclastic vasculitis associated with mycobacterial and salmonella infection
SM Al-Mayouf, S Bahabri, M Majeed |
Clinical Rheumatology | 2006 |
Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency
CM Ward, H Jyonouchi, SV Kotenko, SV Smirnov, R Patel, H Aguila, G McSherry, B Dashefsky, SM Holland |
European Journal of Pediatrics | 2006 |
Susceptibilité mendélienne aux infections mycobactériennes : défauts de l’axe IL-12/IFNγ
C Fieschi |
La Presse Médicale | 2006 |
Mycobacterium tuberculosis and Mycobacterium avium Inhibit IFN- γ -Induced Gene Expression by TLR2-Dependent and Independent Pathways
WP Lafuse, GR Alvarez, HM Curry, BS Zwilling |
Journal of Interferon & Cytokine Research | 2006 |
Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity
R Doffinger, SY Patel, DS Kumararatne |
Microbes and Infection | 2006 |
Prospective Analysis of Cystic Fibrosis Transmembrane Regulator Mutations in Adults With Bronchiectasis or Pulmonary Nontuberculous Mycobacterial Infection
TM Ziedalski, PN Kao, NR Henig, SS Jacobs, SJ Ruoss |
Chest | 2006 |
Mycobacterium avium -induced SOCS contributes to resistance to IFN-γ-mediated mycobactericidal activity in human macrophages
N Vázquez, T Greenwell-Wild, S Rekka, JM Orenstein, SM Wahl |
Journal of leukocyte biology | 2006 |
T Cell-Dependent Activation of Dendritic Cells Requires IL-12 and IFN-γ Signaling in T Cells
F Miro, C Nobile, N Blanchard, M Lind, O Filipe-Santos, C Fieschi, A Chapgier, G Vogt, L de Beaucoudrey, DS Kumararatne, FL Deist, JL Casanova, S Amigorena, C Hivroz |
Journal of immunology (Baltimore, Md. : 1950) | 2006 |
Les mutations « gain de glycosylation »
G Vogt, A Chapgier, N Chuzhanova, J Feinberg, C Fieschi, S Boisson-Dupuis, A Alcais, L Abel, DN Cooper, JL Casanova |
médecine/sciences | 2006 |
Acquired predisposition to mycobacterial disease due to auto-antibodies to IFNg
Beate Kampmann, Cheryl Hemingway, Alick Stephens, Robert Davidson , Anna Goodsall , Suzanne Anderson , Mark Nicol , Elisabeth Schölvinck , David Relman , Simon Waddell , Paul Langford , Brian Sheehan , Lynne Semple , Katalin A Wilkinson , Robert J Wilkinson , Stanley Ress , Martin Hibberd, Michael Levin |
Journal of Clinical Investigation | 2005 |
Selective recruitment of phenotypically defined polarized T cells in tubercular pleural effusion
Dipendra K Mitra, Surendra K Sharma, Amit K Dinda, Maninder S Bindra, Babita Madan, Ajeet Alwadi, Balaram Ghosh |
European Journal of Immunology | 2005 |
Resident Th1-like effector memory cells in pulmonary recall responses to Mycobacterium tuberculosis
J Walrath, L Zukowski, A Krywiak, RF Silver |
American journal of respiratory cell and molecular biology | 2005 |
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
G Vogt, A Chapgier, K Yang, N Chuzhanova, J Feinberg, C Fieschi, S Boisson-Dupuis, A Alcais, O Filipe-Santos, J Bustamante, L Beaucoudrey, I Al-Mohsen, S Al-Hajjar, A Al-Ghonaium, P Adimi, M Mirsaeidi, S Khalilzadeh, S Rosenzweig, OC la Martin, TR Bauer, JM Puck, HD Ochs, D Furthner, C Engelhorn, B Belohradsky, D Mansouri, SM Holland, RD Schreiber, L Abel, DN Cooper, C Soudais, JL Casanova |
Nature Genetics | 2005 |
Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children
PM Wood, C Fieschi, C Picard, TH Ottenhoff, JL Casanova, DS Kumararatne |
European Journal of Pediatrics | 2005 |
Control of human host immunity to mycobacteria
TH Ottenhoff, FA Verreck, MA Hoeve, E de Vosse |
Tuberculosis | 2005 |
Defects in the interferon-gamma and interleukin-12 pathways
SD Rosenzweig, SM Holland |
Immunological Reviews | 2005 |
Syndrome de susceptibilite mendélienne aux infections mycobacteriennes : défauts de l’axe Interleukine-12 - Interféron
E Catherinot, C Fieschi, J Feinberg, JL Casanova, LJ Couderc |
Revue des Maladies Respiratoires | 2005 |
Mechanisms of disease: Atypical familial mycobacteriosis
SY Patel, SM Holland |
Drug Discovery Today: Disease Mechanisms | 2005 |
Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor
D Moraes-Vasconcelos, AS Grumach, A Yamaguti, ME Andrade, C Fieschi, L Beaucoudrey, JL Casanova, AJ Duarte |
Clinical Infectious Diseases | 2005 |
Practice parameter for the diagnosis and management of primary immunodeficiency
FA Bonilla, IL Bernstein, DA Khan, ZK Ballas, J Chinen, MM Frank, LJ Kobrynski, AI Levinson, B Mazer, RP Nelson |
Annals of Allergy Asthma & Immunology | 2005 |
Tuberculosis: from genome to vaccine
MI de Jonge, R Brosch, P Brodin, C Demangel, ST Cole |
Expert Review of Vaccines | 2005 |
Respiratory Genetics
K Tantisira, J Drazen |
Respiratory Genetics | 2005 |
The Pathogenesis of Tuberculosis: The First One Hundred (and Twenty-Three) Years
NW Schluger |
American journal of respiratory cell and molecular biology | 2005 |
NRAMP1 Gene Polymorphism and Susceptibility to Nontuberculous Mycobacterial Lung Diseases
WJ Koh, OJ Kwon, EJ Kim, KS Lee, CS Ki, JW Kim |
Chest | 2005 |
Gamma Interferon Is Dispensable for Neopterin Production In Vivo
R Sghiri, J Feinberg, F Thabet, K Dellagi, J Boukadida, AB Abdelaziz, JL Casanova, MR Barbouche |
Clinical and vaccine immunology : CVI | 2005 |
A link between high serum levels of human chorionic gonadotrophin and chorionic expression of its mature functional receptor (LHCGR) in Down's syndrome pregnancies
S Banerjee, A Smallwood, AE Chambers, A Papageorghiou, H Loosfelt, K Spencer, S Campbell, K Nicolaides |
Reproductive Biology and Endocrinology | 2005 |
Common and Unique Gene Expression Signatures of Human Macrophages in Response to Four Strains of Mycobacterium avium That Differ in Their Growth and Persistence Characteristics
A Blumenthal, J Lauber, R Hoffmann, M Ernst, C Keller, J Buer, S Ehlers, N Reiling |
Infection and immunity | 2005 |
Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infection
D Mansouri, P Adimi, M Mirsaeidi, N Mansouri, S Khalilzadeh, MR Masjedi, P Adimi, P Tabarsi, M Naderi, O Filipe-Santos, G Vogt, L de Beaucoudrey, J Bustamante, A Chapgier, J Feinberg, AA Velayati, JL Casanova |
European Journal of Pediatrics | 2005 |
The role of IL-12, IL-23 and IFN-γ in immunity to viruses
F Novelli, JL Casanova |
Cytokine & Growth Factor Reviews | 2004 |
Use of cytokines in infection
N Aoki, Z Xing |
Expert Opinion on Emerging Drugs | 2004 |
Persistent bacterial infections: the interface of the pathogen and the host immune system
DM Monack, A Mueller, S Falkow |
Nature Reviews Microbiology | 2004 |
Differential production of interleukin-10 and interleukin-12 in mononuclear cells from leprosy patients with a Toll-like receptor 2 mutation
TJ Kang, CE Yeum, BC Kim, EY You, GT Chae |
Immunology | 2004 |
No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample
AA Awomoyi, S Nejentsev, A Richardson, J Hull, O Koch, M Podinovskaia, JA Todd, KP McAdam, JM Blackwell, D Kwiatkowski, MJ Newport |
Thorax | 2004 |
Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae
E de Vosse, MA Hoeve, TH Ottenhoff |
The Lancet Infectious Diseases | 2004 |
Inherited disorders of cytokines:
C Picard, JL Casanova |
Current Opinion in Pediatrics | 2004 |
Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey
J Roesler, ME Horwitz, C Picard, P Bordigoni, G Davies, E Koscielniak, M Levin, P Veys, U Reuter, A Schulz, C Thiede, T Klingebiel, A Fischer, SM Holland, JL Casanova, W Friedrich |
The Journal of Pediatrics | 2004 |
HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency
Y Camcioglu, C Picard, V Lacoste, S Dupuis, N Akçakaya, H Çokura, G Kaner, C Demirkesen, S Plancoulaine, JF Emile, A Gessain, JL Casanova |
The Journal of Pediatrics | 2004 |
Phagocyte immunodeficiencies and their infections
SD Rosenzweig, SM Holland |
Journal of Allergy and Clinical Immunology | 2004 |
A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states
SD Rosenzweig, SE Dorman, G Uzel, S Shaw, A Scurlock, MR Brown, RH Buckley, SM Holland |
Journal of immunology (Baltimore, Md. : 1950) | 2004 |
Bacillus Calmette Gu�rin triggers the IL-12/IFN-? axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T?lymphocytes
J Feinberg, C Fieschi, R Doffinger, M Feinberg, T Leclerc, S Boisson-Dupuis, C Picard, J Bustamante, A Chapgier, O Filipe-Santos, CL Ku, L Beaucoudrey, J Reichenbach, G Antoni, R Bald�, A Alca�s, JL Casanova |
European Journal of Immunology | 2004 |
Toll-like Receptor 2 Stimulation Decreases IFN-γ Receptor Expression in Mouse RAW264.7 Macrophages
H Curry, GR Alvarez, BS Zwilling, WP Lafuse |
Journal of Interferon & Cytokine Research | 2004 |
Induction of persistent in vivo resistance to Mycobacterium avium infection in BALB/c mice injected with interleukin-18-secreting fibroblasts
SW Chung, SH Choi, TS Kim |
Vaccine | 2004 |
Adjuvant interferon gamma in patients with drug – resistant pulmonary tuberculosis: a pilot study
R Suárez-Méndez, I García-García, N Fernández-Olivera, M Valdés-Quintana, MT Milanés-Virelles, D Carbonell, D Machado-Molina, CM Valenzuela-Silva, PA López-Saura |
BMC Infectious Diseases | 2004 |
Mycobacterium avium complex Pulmonary Disease in Patients Without HIV Infection
SK Field, D Fisher, RL Cowie |
Chest | 2004 |
Congenital defects in the interferon-??/interleukin-12 pathway:
SD Rosenzweig, SM Holland |
Current Opinion in Pediatrics | 2004 |
Aerosolized Gamma Interferon (IFN-γ) Induces Expression of the Genes Encoding the IFN-γ-Inducible 10-Kilodalton Protein but Not Inducible Nitric Oxide Synthase in the Lung during Tuberculosis
B Raju, Y Hoshino, K Kuwabara, I Belitskaya, S Prabhakar, A Canova, JA Gold, R Condos, RI Pine, S Brown, WN Rom, MD Weiden |
Infection and immunity | 2004 |
Impairment of IL-12-Dependent STAT4 Nuclear Translocation in a Patient with Recurrent Mycobacterium avium Infection
H Toyoda, M Ido, T Hayashi, EC Gabazza, K Suzuki, J Bu, S Tanaka, T Nakano, H Kamiya, J Chipeta, RR Kisenge, J Kang, H Hori, Y Komada |
Journal of immunology (Baltimore, Md. : 1950) | 2004 |
Characterization of a Dipeptide Motif Regulating IFN-γ Receptor 2 Plasma Membrane Accumulation and IFN-γ Responsiveness
SD Rosenzweig, OM Schwartz, MR Brown, TL Leto, SM Holland |
Journal of immunology (Baltimore, Md. : 1950) | 2004 |
Recombinant gamma interferon stimulates signal transduction and gene expression in alveolar macrophages in vitro and in tuberculosis patients
R Condos, B Raju, A Canova, BY Zhao, M Weiden, WN Rom, R Pine |
Infection and immunity | 2003 |
Infections in patients with inherited defects in phagocytic function
T Andrews, KE Sullivan |
Clinical microbiology reviews | 2003 |
Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency: Medical and Immunological Implications
C Fieschi, S Dupuis, E Catherinot, J Feinberg, J Bustamante, A Breiman, F Altare, R Baretto, FL Deist, S Kayal, H Koch, D Richter, M Brezina, G Aksu, P Wood, S Al-Jumaah, M Raspall, AJ da Duarte, D Tuerlinckx, JL Virelizier, A Fischer, A Enright, J Bernhöft, AM Cleary, C Vermylen, C Rodriguez-Gallego, G Davies, R Blütters-Sawatzki, CA Siegrist, MS Ehlayel, V Novelli, WH Haas, J Levy, J Freihorst, S Al-Hajjar, D Nadal, DM Vasconcelos, O Jeppsson, N Kutukculer, K Frecerova, I Caragol, D Lammas, DS Kumararatne, L Abel, JL Casanova |
Journal of Experimental Medicine | 2003 |
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome
R Ito, M Mori, S Katakura, N Kobayashi, T Naruto, Y Osamura, Y Aihara, S Yokota |
Allergy | 2003 |
A natural mutation in the Tyk2 pseudokinase domain underlies altered susceptibility of B10.Q/J mice to infection and autoimmunity
MH Shaw, V Boyartchuk, S Wong, M Karaghiosoff, J Ragimbeau, S Pellegrini, M Muller, WF Dietrich, GS Yap |
Proceedings of the National Academy of Sciences | 2003 |
Immune deficiencies due to defects in cytokine signaling
J Kelly, WJ Leonard |
Current Allergy and Asthma Reports | 2003 |
Update on primary immunodeficiency: defects of lymphocytes
SJ Simonte, C Cunningham-Rundles |
Clinical Immunology | 2003 |
Medium- and Large-Vessel Vasculitis
CM Weyand, JJ Goronzy |
New England Journal of Medicine | 2003 |
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency
S Dupuis, E Jouanguy, S Al-Hajjar, C Fieschi, IZ Al-Mohsen, S Al-Jumaah, K Yang, A Chapgier, C Eidenschenk, P Eid, AA Ghonaium, H Tufenkeji, H Frayha, S Al-Gazlan, H Al-Rayes, RD Schreiber, I Gresser, JL Casanova |
Nature Genetics | 2003 |
Interferon-γ and Host Susceptibility to Tuberculosis
R Bellamy |
American journal of respiratory and critical care medicine | 2003 |
Nontuberculous mycobacterial infections of the head and neck
JT Albright, SM Pransky |
Pediatric Clinics of North America | 2003 |
Susceptibility to mycobacterial infections: the importance of host genetics
R Bellamy |
Genes and Immunity | 2003 |
Interferon-γ: an overview of signals, mechanisms and functions
K Schroder, PJ Hertzog, T Ravasi, DA Hume |
Journal of leukocyte biology | 2003 |
Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea
SB Lee, BC Kim, SH Jin, YG Park, SK Kim, TJ Kang, GT Chae |
Immunogenetics | 2003 |
Tropical Diseases
S Marzuki, J Verhoef, H Snippe |
2003 | |
Differential Expression of Gamma Interferon mRNA Induced by Attenuated and Virulent Mycobacterium tuberculosis in Guinea Pig Cells after Mycobacterium bovis BCG Vaccination
A Jeevan, T Yoshimura, KE Lee, DN McMurray |
Infection and immunity | 2003 |
Genetic variations in the interleukin-12/interleukin-23 receptor (β1) chain, and implications for IL-12 and IL-23 receptor structure and function
E van de Vosse, EG Lichtenauer-Kaligis, JT van Dissel, TH Ottenhoff |
Immunogenetics | 2003 |
Adenovirus-mediated murine interferon-gamma receptor transfer enhances the efficacy of IFN-gamma in vivo
Y Nishida, Y Maeda, A Hara, T Arima, E Kimura, S Yamashita, E Uyama, S Mita, M Uchino |
Biochemical and Biophysical Research Communications | 2002 |
White blood cell defects: Molecular discoveries and clinical management
G Uzel, SM Holland |
Current Allergy and Asthma Reports | 2002 |
Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway
DA Lammas, ED Heer, JD Edgar, V Novelli, A Ben-Smith, R Baretto, P Drysdale, J Binch, C MacLennan, DS Kumararatne, S Panchalingam, TH Ottenhoff, JL Casanova, JF Emile |
International Journal of Experimental Pathology | 2002 |
Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae
TH Ottenhoff, FA Verreck, EG Lichtenauer-Kaligis, MA Hoeve, O Sanal, JT van Dissel |
Nature Genetics | 2002 |
Divergent Role for TNF-α in IFN-γ-Induced Killing of Toxoplasma gondii and Salmonella typhimurium Contributes to Selective Susceptibility of Patients with Partial IFN-γ Receptor 1 Deficiency
R Janssen, A van Wengen, E Verhard, T de Boer, T Zomerdijk, TH Ottenhoff, JT van Dissel |
Journal of immunology (Baltimore, Md. : 1950) | 2002 |
Innate immunity to Mycobacterium tuberculosis
R Crevel, TH Ottenhoff, JW van der Meer |
Clinical microbiology reviews | 2002 |
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
C Picard, C Fieschi, F Altare, S Al-Jumaah, S Al-Hajjar, J Feinberg, S Dupuis, C Soudais, IZ Al-Mohsen, E Génin, D Lammas, DS Kumararatne, T Leclerc, A Rafii, H Frayha, B Murugasu, LB Wah, R Sinniah, M Loubser, E Okamoto, A Al-Ghonaium, H Tufenkeji, L Abel, JL Casanova |
The American Journal of Human Genetics | 2002 |
Human natural killer cell deficiencies and susceptibility to infection
JS Orange |
Microbes and Infection | 2002 |
A POLYMORPHISM IN THE TOLL-LIKE RECEPTOR 2 IS ASSOCIATED WITH IL-12 PRODUCTION FROM MONOCYTE IN LEPROMATOUS LEPROSY
TJ Kang, SB Lee, GT Chae |
Cytokine | 2002 |
Genetic Susceptibility to Tuberculosis
S Malik, E Schurr |
Clinical Chemistry and Laboratory Medicine | 2002 |
Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update
R Döffinger, S Dupuis, C Picard, C Fieschi, J Feinberg, G Barcenas-Morales, JL Casanova |
Molecular Immunology | 2002 |
GENETICDISSECTION OFIMMUNITY TOMYCOBACTERIA: The Human Model
JL Casanova, L Abel |
Annual Review of Immunology | 2002 |
Nontuberculous mycobacteria in women, young and old
W Chalermskulrat, JG Gilbey, JF Donohue |
Clinics in Chest Medicine | 2002 |
Pathogenesis of nontuberculous mycobacteria infections
J McGarvey, LE Bermudez |
Clinics in Chest Medicine | 2002 |
Fever and leg pain in a 42-month-old
KH Waibel, DP Regis, G Uzel, SD Rosenzweig, SM Holland |
Annals of Allergy Asthma & Immunology | 2002 |
Host susceptibility factors in mycobacterial infection: Genetics and body morphotype
SV Guide, SM Holland |
Infectious Disease Clinics of North America | 2002 |
Alphabeta T cell receptor-positive cells and interferon-gamma, but not inducible nitric oxide synthase, are critical for granuloma necrosis in a mouse model of mycobacteria-induced pulmonary immunopathology
S Ehlers, J Benini, HD Held, C Roeck, G Alber, S Uhlig |
Journal of Experimental Medicine | 2001 |
Recent advances in our understanding of human host responses to tuberculosis
NW Schluger |
Respiratory Research | 2001 |
Interleukin-12 primes CD4+ T cells for interferon-gamma production and protective immunity during Mycobacterium avium infection
RA Silva, M Flórido, R Appelberg |
Immunology | 2001 |
Induction of in vivo resistance to Mycobacterium avium infection by intramuscular injection with DNA encoding interleukin-18
SH Kim, D Cho, TS Kim |
Immunology | 2001 |
Expression of IL-18 by Mycobacterium avium-infected human monocytes; association with M. avium virulence
H Shiratsuchi, JJ Ellner |
Clinical & Experimental Immunology | 2001 |
Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients
TJ Kang, GT Chae |
FEMS Immunology & Medical Microbiology | 2001 |
Mycobacterial diseases in primary immunodeficiencies
J Reichenbach, S Rosenzweig, R D??ffinger, S Dupuis, SM Holland, JL Casanova |
Current Opinion in Allergy and Clinical Immunology | 2001 |
MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY
G Aksu, C Trpan, C Çavuşoğlu, S Soydan, F Altare, JL Casanova, N Kutukculer |
The Pediatric Infectious Disease Journal | 2001 |
Inflammation
JA Hunt |
Encyclopedia of Materials Science and Technology | 2001 |
Impaired Interferon Gamma-Mediated Immunity and Susceptibility to Mycobacterial Infection in Childhood
N Remus, J Reichenbach, C Picard, C Rietschel, P Wood, D Lammas, DS Kumararatne, JL Casanova |
Pediatric Research | 2001 |
Human Immunodeficiency Virus–Seronegative Adults with Extrapulmonary Tuberculosis Have Abnormal Innate Immune Responses
TR Sterling, SE Dorman, RE Chaisson, L Ding, J Hackman, K Moore, SM Holland |
Clinical Infectious Diseases | 2001 |
Nontuberculous Mycobacteria
SM Holland |
The American Journal of the Medical Sciences | 2001 |
Specific Inhibition of Interferon Signal Transduction Pathways by Adenoviral Infection
TD Joseph, DC Look |
The Journal of biological chemistry | 2001 |
Immunology of Infectious Diseases
SH Kaufmann, A Sher, R Ahmed |
2001 | |
Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation
S Dupuis, C Dargemont, C Fieschi, N Thomassin, S Rosenzweig, J Harris, SM Holland, RD Schreiber, JL Casanova |
Science | 2001 |
Non-Major Histocompatibility Complex Control of Antibody Isotype and Th1 versus Th2 Cytokines during Experimental Infection of Mice with Mycobacterium avium
AD O'Brien, V Nagabhushanam, C Cheers |
Infection and immunity | 2001 |
A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency
LM Allende, A López-Goyanes, E Paz-Artal, A Corell, MA Garcı́a-Pérez, P Varela, A Scarpellini, S Negreira, E Palenque, A Arnaiz-Villena |
Clinical and diagnostic laboratory immunology | 2001 |
Infection of Human Macrophages and Dendritic Cells with Mycobacterium tuberculosis Induces a Differential Cytokine Gene Expression That Modulates T Cell Response
E Giacomini, E Iona, L Ferroni, M Miettinen, L Fattorini, G Orefici, I Julkunen, EM Coccia |
Journal of immunology (Baltimore, Md. : 1950) | 2001 |
CD4 + and CD8 + T Cells Kill Intracellular Mycobacterium tuberculosis by a Perforin and Fas/Fas Ligand-Independent Mechanism
DH Canaday, RJ Wilkinson, Q Li, CV Harding, RF Silver, WH Boom |
Journal of immunology (Baltimore, Md. : 1950) | 2001 |
IL-12 et IFN-γ : un axe clé de l’immunité anti-mycobactérienne chez l’homme
F Altare, JL Casanova |
médecine/sciences | 2001 |
Signal-Transduction Defects in T cells
E Grunebaum, CM Roifman |
Clinical Reviews in Allergy & Immunology | 2001 |
Immune Deficiency Presenting as Mycobacterial Infection
SM Holland |
Clinical Reviews in Allergy & Immunology | 2001 |
Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-gamma) pathway
DA Lammas, JL Casanova, DS Kumararatne |
Clinical & Experimental Immunology | 2000 |
Genetic, Biochemical, and Clinical Features of Chronic Granulomatous Disease
BH Segal, TL Leto, JI Gallin, HL Malech, SM Holland |
Medicine | 2000 |
Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection
SM Holland |
Microbes and Infection | 2000 |
Osteopontin Expression Correlates with Clinical Outcome in Patients with Mycobacterial Infection
GJ Nau, GL Chupp, JF Emile, E Jouanguy, JS Berman, JL Casanova, RA Young |
The American Journal of Pathology | 2000 |
Reactive nitrogen intermediates and the pathogenesis of Salmonella and mycobacteria
M Shiloh |
Current Opinion in Microbiology | 2000 |
Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human T cells
CE Verhagen, B T, HH Smits, FA Verreck, EA Wierenga, M Kurimoto, DA Lammas, DS Kumararatne, O Sanal, FP Kroon, D JT, F Sinigaglia, TH Ottenhoff |
Journal of Experimental Medicine | 2000 |
Human deficiencies in type 1 cytokine receptors reveal the essential role of type 1 cytokines in immunity to intracellular bacteria
TH Ottenhoff, T Boer, CE Verhagen, FA Verreck, JT van Dissel |
Microbes and Infection | 2000 |
COUGH, FATIGUE AND BRONCHOPULMONARY DISEASE IN TWO IMMUNOCOMPETENT CHILDREN: DENOUEMENT???Continued from p. 1209
&NA; |
The Pediatric Infectious Disease Journal | 2000 |
Immunodeficiency Diseases Caused by Defects in Phagocytes
IR Mackay, FS Rosen, JA Lekstrom-Himes, JI Gallin |
New England Journal of Medicine | 2000 |
Interferon-γ and interleukin-12 pathway defects and human disease
SE Dorman, SM Holland |
Cytokine & Growth Factor Reviews | 2000 |
Diagnosis of defects in the type 1 cytokine pathway
DA Lammas, P Drysdale, A Ben-Smith, J Girdlestone, D Edgar, DS Kumararatne |
Microbes and Infection | 2000 |
Inherited predisposition to mycobacterial infection: historical considerations
M Levin, M Newport |
Microbes and Infection | 2000 |
Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection
R Döffinger, F Altare, JL Casanova |
Microbes and Infection | 2000 |
Cytokines and T cells in host defense
CA Hunter, SL Reiner |
Current Opinion in Immunology | 2000 |
Residual Type 1 Immunity in Patients Genetically Deficient for Interleukin 12 Receptor 1 (IL-12R 1): Evidence for an IL-12R 1-Independent Pathway of IL-12 Responsiveness in Human T Cells
CE Verhagen, T Boer, HH Smits, FA Verreck, EA Wierenga, M Kurimoto, DA Lammas, DS Kumararatne, O Sanal, FP Kroon, JT van Dissel, F Sinigaglia, TH Ottenhoff |
Journal of Experimental Medicine | 2000 |
Enhancement of the human T cell response to culture filtrate fractions of Mycobacterium tuberculosis by microspheres
KA Wilkinson, JT Belisle, M Mincek, RJ Wilkinson, Z Toossi |
Journal of Immunological Methods | 2000 |
DIAGNOSIS AND MANAGEMENT OF INHERITABLE DISORDERS OF INTERFERON-γ–MEDIATED IMMUNITY
C Picard, O Baud, C Fieschi, JL Casanova |
Immunology and Allergy Clinics of North America | 2000 |
Th1 T-CELL AND MONOCYTE DEFECTS
G Uzel, SM Holland |
Pediatric Clinics of North America | 2000 |
Prédisposition génétique aux infections mycobactériennes chez l'homme
C Fieschi, JL Casanova |
Médecine et Maladies Infectieuses | 2000 |
Anti-Inflammatory Cytokines
SM Opal, VA DePalo |
Chest | 2000 |
Mycobacteriosis in the compromised host
PH Lagrange, A Wargnier, JL Herrmann |
Memórias do Instituto Oswaldo Cruz | 2000 |
Gamma Interferon Is Essential for Clearing Mycobacterium genavense Infection
SH Kaufmann, S Ehlers, E Richter |
Infection and immunity | 2000 |
Biologic functions of the IFN-gamma receptors
G Tau, P Rothman |
Allergy | 1999 |
Understanding the Genetic Basis of Susceptibility to Mycobacterial Infection
M Levin, M Newport |
Proceedings of The Association of American Physicians | 1999 |
Interleukin-12-secreting fibroblasts are more efficient than free recombinant interleukin-12 in inducing the persistent resistance to Mycobacterium avium complex infection
BY Kang, SW Chung, YS Lim, EJ Kim, SH Kim, SY Hwang, TS Kim |
Immunology | 1999 |
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon
JA Lekstrom-Himes, SE Dorman, P Kopar, SM Holland, JI Gallin |
Journal of Experimental Medicine | 1999 |
Influence of polymorphism in the genes for the interleukin (IL)-1 receptor antagonist and IL-1beta on tuberculosis
RJ Wilkinson, P Patel, M Llewelyn, CS Hirsch, G Pasvol, G Snounou, RN Davidson, Z Toossi |
Journal of Experimental Medicine | 1999 |
Expression of inducible nitric oxide synthase in human granulomas and histiocytic reactions
F Facchetti, W Vermi, S Fiorentini, M Chilosi, A Caruso, M Duse, LD Notarangelo, R Badolato |
The American Journal of Pathology | 1999 |
Genetic effects on immunity New genes — how do they fit?
ME Conley |
Current Opinion in Immunology | 1999 |
Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels
PS Gao, XQ Mao, E Jouanguy, A Pallier, R Döffinger, Y Tanaka, H Nakashima, T Otsuka, MH Roberts, T Enomoto, Y Dake, M Kawai, S Sasaki, SR Shaldon, P Coull, CN Adra, Y Niho, JL Casanova, T Shirakawa, JM Hopkin |
Biochemical and Biophysical Research Communications | 1999 |
Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man
R Döffinger, E Jouanguy, F Altare, JL Casanova, P Wood, D Lammas, D Kumararatne, T Shirakawa, F Novelli |
Allergy | 1999 |
Growth of Mycobacterium bovis, Bacille Calmette-Guérin, within human monocytes-macrophages cultured in serum-free medium
S Lamhamedi-Cherradi, C Chastellier, JL Casanova |
Journal of Immunological Methods | 1999 |
Neutrophil-specific Granule Deficiency Results from a Novel Mutation with Loss of Function of the Transcription Factor CCAAT/Enhancer Binding Protein
JA Lekstrom-Himes, SE Dorman, P Kopar, SM Holland, JI Gallin |
Journal of Experimental Medicine | 1999 |
Influence of Polymorphism in the Genes for the Interleukin (IL)-1 Receptor Antagonist and IL-1 on Tuberculosis
RJ Wilkinson, P Patel, M Llewelyn, CS Hirsch, G Pasvol, G Snounou, RN Davidson, Z Toossi |
Journal of Experimental Medicine | 1999 |
SIGNAL TRANSDUCTION
SY Cohen, CM Roifman |
Immunology and Allergy Clinics of North America | 1999 |
Interferon-γ receptor deficiency: An expanding clinical phenotype?
JL Casanova, HD Ochs |
The Journal of Pediatrics | 1999 |
IL-12-Independent Costimulation Pathways for Interferon-γ Production in Familial DisseminatedMycobacterium aviumComplex Infection
DM Frucht, DI Sandberg, MR Brown, SM Gerstberger, SM Holland |
Clinical Immunology | 1999 |
The antigen 85 complex vaccine against experimental Mycobacterium leprae infection in mice
M Naito, M Matsuoka, N Ohara, H Nomaguchi, T Yamada |
Vaccine | 1999 |
Biologic functions of the IFN-γ receptors
G Tau, P Rothman |
Allergy | 1999 |
IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men
E Jouanguy, R Döffinger, S Dupuis, A Pallier, F Altare, J L Casanova |
Current Opinion in Immunology | 1999 |
Viral infections in interferon-gamma receptor deficiency
S E Dorman, G Uzel, J Roesler, J S Bradley, J Bastian, G Billman, S King, A Filie, J Schermerhorn, S M Holland |
The Journal of Pediatrics | 1999 |
Gamma Interferon Stimulates Rat Alveolar Macrophages To Kill Pneumocystis carinii byl-Arginine- and Tumor Necrosis Factor-Dependent Mechanisms
TR Kozel, JF Downing, DL Kachel, R Pasula, WJ Martin |
Infection and immunity | 1999 |
Increased Antimycobacterial Immunity in Interleukin-10-Deficient Mice
SH Kaufmann, PJ Murray, RA Young |
Infection and immunity | 1999 |
Viral infections in interferon-γ receptor deficiency
Dorman SE, Uzel G, Roesler J, Bradley JS, Bastian J, Billman G, King S, Filie A, Schermerhorn J, Holland SM |
The Journal of Pediatrics | 1999 |
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
F Altare, D Lammas, P Revy, E Jouanguy, R Döffinger, S Lamhamedi, P Drysdale, D Scheel-Toellner, J Girdlestone, P Darbyshire, M Wadhwa, H Dockrell, M Salmon, A Fischer, A Durandy, JL Casanova, DS Kumararatne |
Journal of Clinical Investigation | 1998 |
Interleukin 12 deficiency associated with recurrent infections
S Haraguchi, NK Day, RP Nelson, P Emmanuel, JE Duplantier, CS Christodoulou, RA Good |
Proceedings of the National Academy of Sciences | 1998 |
Novel human immunodeficiencies reveal the essential role of type-1 cytokines in immunity to intracellular bacteria
TH Ottenhoff, D Kumararatne, JL Casanova |
Immunology Today | 1998 |
Mendelian susceptibility to mycobacterial infection in man
F Altare, E Jouanguy, S Lamhamedi, R Döffinger, A Fischer, J L Casanova |
Current Opinion in Immunology | 1998 |
IFN regulatory factor-1 plays a central role in the regulation of the expression of class I and II MHC genes in vivo
TA Fleisher, SE Dorman, JA Anderson, M Vail, MR Brown, SM Holland |
Journal of immunology (Baltimore, Md. : 1950) | 1997 |
IFN regulatory factor-1 plays a central role in the regulation of the expression of class I and II MHC genes in vivo
TA Fleisher, SE Dorman, JA Anderson, M Vail, MR Brown, SM Holland |
Journal of immunology (Baltimore, Md. : 1950) | 1997 |
Advances in Genetics
BH Bowman, F Yang, GS Adrian |
Advances in genetics | 1988 |
Clinical Approach to Infection in the Compromised Host
RH Rubin, LS Young |
1988 |