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Citations to this article

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.
S E Dorman, S M Holland
S E Dorman, S M Holland
Published June 1, 1998
Citation Information: J Clin Invest. 1998;101(11):2364-2369. https://doi.org/10.1172/JCI2901.
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Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.

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Abstract

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.

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S E Dorman, S M Holland

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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

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