article_metadata: Joseph Mackie Daniel Suan Peter McNaughton Filomeen Haerynck Michael O'Sullivan Antoine Guerin Cindy S Ma Stuart G Tangye
article_metadata: 10.1093/cei/uxaf005
article_metadata: Clin Exp Immunol
article_metadata: 2025 Jan 21;219(1):uxaf005.
article_metadata: autoimmunity hypogammaglobulinemia immuno-dysregulation immunodeficiency immunogenetics
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39836489/
article_metadata: Gain of Function Mutation STAT3 Transcription Factor / genetics STAT3 Transcription Factor / metabolism
article_metadata: Gain of Function Mutation STAT3 Transcription Factor / genetics STAT3 Transcription Factor / metabolism Case Reports Adult Agammaglobulinemia / genetics Agammaglobulinemia / immunology B-Lymphocytes / immunology Female Humans Male Mutation, Missense Receptors, CXCR3 / genetics Receptors, CXCR3 / metabolism T Follicular Helper Cells / immunology STAT3 Transcription Factor STAT3 protein, human Receptors, CXCR3 CXCR3 protein, human
article_metadata: PMC11791529
article_metadata: 39836489
article_metadata: Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects
article_metadata: 2025