Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker
Title and authors | Publication | Year |
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Targeting ERBB2 and PIK3R1 as a therapeutic strategy for dilated cardiomyopathy: A single-cell sequencing and mendelian randomization analysis
He B, Quan L, Li C, Yan W, Zhang Z, Zhou L, Wei Q, Li Z, Mo J, Zhang Z, Pan X, Huang J, Liu L |
Heliyon | 2024 |
Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review
Yang X, Xi R, Bai J, Pan Y |
Medicine | 2023 |
Autoimmune-lymphoproliferative immunodeficiencies (ALPID)
Magerus A, Rensing-Ehl A, Rao VK, Teachey D, Rieux-Laucat F, Ehl S |
Journal of Allergy and Clinical Immunology | 2023 |
The miR-26 family regulates early B cell development and transformation
K Hutter, S Lindner, C Kurschat, T Rülicke, A Villunger, S Herzog |
Life science alliance | 2022 |
The role of PI3Kγ in the immune system: new insights and translational implications.
Lanahan SM, Wymann MP, Lucas CL |
Nature reviews. Immunology | 2022 |
Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.
Guevara-Hoyer K, Fuentes-Antrás J, de la Fuente-Muñoz E, Fernández-Arquero M, Solano F, Pérez-Segura P, Neves E, Ocaña A, Pérez de Diego R, Sánchez-Ramón S |
Frontiers in immunology | 2022 |
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature
E Maines, R Franceschi, D Martinelli, F Soli, FR Lepri, G Piccoli, M Soffiati |
Hormones (Athens, Greece) | 2021 |
The Role of PTEN in Innate and Adaptive Immunity
H Taylor, AD Laurence, HH Uhlig |
Cold Spring Harbor Perspectives in Medicine | 2019 |
High‐throughput compound screen reveals mTOR inhibitors as potential therapeutics to reduce (auto)antibody production by human plasma cells
P Tuijnenburg, DJ aan de Kerk, MH Jansen, B Morris, C Lieftink, RL Beijersbergen, EM Leeuwen, TW Kuijpers |
European Journal of Immunology | 2019 |
PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature
R Yazdani, Z Hamidi, F Babaha, G Azizi, S Fekrvand, H Abolhassani, A Aghamohammadi |
Endocrine, metabolic & immune disorders drug targets | 2019 |
Pulmonary Manifestations of Primary Immunodeficiency Diseases
SA Mahdaviani, N Rezaei |
2019 | |
A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report
GM Li, HM Liu, WZ Guan, H Xu, BB Wu, JY Feng, L Sun |
Medicine | 2019 |
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
AJ Takeda, TJ Maher, Y Zhang, SM Lanahan, ML Bucklin, SR Compton, PM Tyler, WA Comrie, M Matsuda, KN Olivier, S Pittaluga, JJ McElwee, DA Priel, DB Kuhns, RL Williams, PJ Mustillo, MP Wymann, VK Rao, CL Lucas |
Nature Communications | 2019 |
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review
M Jamee, S Moniri, M Zaki-Dizaji, P Olbrich, R Yazdani, F Jadidi-Niaragh, F Aghamahdi, H Abolhassani, AM Condliffe, A Aghamohammadi, G Azizi |
Clinical Reviews in Allergy & Immunology | 2019 |
CRISPR/Cas9 applications in gene therapy for primary immunodeficiency diseases
SS Ravin, J Brault |
Emerging Topics in Life Sciences | 2019 |
Primary immunodeficiencies: novel genes and unusual presentations
LD Notarangelo, G Uzel, VK Rao |
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program | 2019 |
Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects
RD Jhamnani, CJ Nunes-Santos, J Bergerson, SD Rosenzweig |
Frontiers in immunology | 2018 |
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
B Afzali, J Grönholm, J Vandrovcova, C O'Brien, HW Sun, I Vanderleyden, FP Davis, A Khoder, Y Zhang, AN Hegazy, AV Villarino, IW Palmer, J Kaufman, NR Watts, M Kazemian, O Kamenyeva, J Keith, A Sayed, D Kasperaviciute, M Mueller, JD Hughes, IJ Fuss, MF Sadiyah, K Montgomery-Recht, J McElwee, NP Restifo, W Strober, MA Linterman, PT Wingfield, HH Uhlig, R Roychoudhuri, TJ Aitman, P Kelleher, MJ Lenardo, JJ O'Shea, N Cooper, AD Laurence |
Nature Immunology | 2017 |
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1
P Tang, JE Upton, MA Barton-Forbes, MI Salvadori, MP Clynick, AK Price, SL Goobie |
Journal of Clinical Immunology | 2017 |
Thyroid Carcinoma in a Child with Activated Phosphoinositide 3-Kinase δ Syndrome: Somatic Effect of a Germline Mutation
G Bucciol, L Willems, E Hauben, A Uyttebroeck, M Proesmans, I Meyts |
Journal of Clinical Immunology | 2017 |
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1
GL Dornan, BD Siempelkamp, ML Jenkins, O Vadas, CL Lucas, JE Burke |
Proceedings of the National Academy of Sciences | 2017 |
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
MB García-Morato, S García-Miñaúr, JM Garicano, FS Simarro, E López-Grandos, AF Cerdán, RR Pena |
Clinical Immunology | 2017 |
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1
GL Dornan, BD Siempelkamp, ML Jenkins, O Vadas, CL Lucas, JE Burke |
Proceedings of the National Academy of Sciences | 2017 |
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis
A Mauro, E Omoyinmi, NJ Sebire, A Barnicoat, P Brogan |
Case Reports in Pediatrics | 2017 |
De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis
A Mauro, E Omoyinmi, NJ Sebire, A Barnicoat, P Brogan |
Case Reports in Pediatrics | 2017 |
The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects
B Grimbacher, K Warnatz, PF Yong, AS Korganow, HH Peter |
Journal of Allergy and Clinical Immunology | 2016 |
F-actin remodeling defects as revealed in primary immunodeficiency disorders
WJ Janssen, HC Geluk, M Boes |
Clinical Immunology | 2016 |
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
S Petrovski, RE Parrott, JL Roberts, H Huang, J Yang, B Gorentla, T Mousallem, E Wang, M Armstrong, D McHale, NJ MacIver, DB Goldstein, XP Zhong, RH Buckley |
Journal of Clinical Immunology | 2016 |
Encyclopedia of Immunobiology
IA Stelzer, PC Arck |
Encyclopedia of Immunobiology | 2016 |
Impaired Akt phosphorylation in B-cells of patients with common variable immunodeficiency
R Yazdani, M Ganjalikhani-Hakemi, M Esmaeili, H Abolhassani, S Vaeli, A Rezaei, Z Sharifi, G Azizi, N Rezaei, A Aghamohammadi |
Clinical Immunology | 2016 |
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort
CY Lau, AD Mihalek, J Wang, LE Dodd, K Perkins, S Price, S Webster, S Pittaluga, LR Folio, VK Rao, KN Olivier |
Annals of the American Thoracic Society | 2016 |