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Citations to this article

A human immunodeficiency caused by mutations in the PIK3R1 gene
Marie-Céline Deau, … , Alain Fischer, Sven Kracker
Marie-Céline Deau, … , Alain Fischer, Sven Kracker
Published April 1, 2015
Citation Information: J Clin Invest. 2015;125(4):1764-1765. https://doi.org/10.1172/JCI81746.
View: Text | PDF | Amended Article
Corrigendum Article has an altmetric score of 6

A human immunodeficiency caused by mutations in the PIK3R1 gene

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Abstract

Authors

Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker

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Total citations by year

Year: 2024 2023 2022 2021 2019 2018 2017 2016 Total
Citations: 1 2 3 1 9 1 8 6 31
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article (31)

Title and authors Publication Year
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

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