article_metadata: Menno C van Zelm Julian J Bosco Pei M Aui Samuel De Jong Fiona Hore-Lacy Robyn E O'Hehir Robert G Stirling Paul U Cameron
article_metadata: 10.3389/fimmu.2019.00768
article_metadata: Front Immunol
article_metadata: 2019 Apr 24;10:768.
article_metadata: il2rα stat1 stat3 chronic mucocutaneous candidiasis gain-of-function hypogammaglobulinemia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31068927/
article_metadata: B-Lymphocytes / metabolism Gain of Function Mutation Interleukin-2 Receptor alpha Subunit / metabolism STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism STAT3 Transcription Factor / metabolism
article_metadata: B-Lymphocytes / metabolism Gain of Function Mutation Interleukin-2 Receptor alpha Subunit / metabolism STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism STAT3 Transcription Factor / metabolism Case Reports Research Support, Non-U.S. Gov't Gene Rearrangement Genotype Humans Immunoglobulins / genetics Immunophenotyping Lymphocyte Activation / genetics Lymphocyte Activation / immunology Male Phosphorylation Signal Transduction Immunoglobulins Interleukin-2 Receptor alpha Subunit STAT1 Transcription Factor STAT1 protein, human STAT3 Transcription Factor STAT3 protein, human
article_metadata: PMC6491679
article_metadata: 31068927
article_metadata: Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation
article_metadata: 2019