Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.

ABSTRACT: Patients with rare homozygous mutations in signal transducer and activator of transcription 5B (STAT5B) develop immunodeficiency resulting in chronic eczema, chronic infections, autoimmunity, and chronic lung disease. STAT5B-deficient patients are typically diagnosed in the teenage years, limiting our understanding of the development of associated phenotypic immune abnormalities. We report the first detailed chronological account of post-natal immune dysfunction associated with STAT5B deficiency in humans. Annual immunophenotyping of three siblings carrying a novel homozygous nonsense mutation in STAT5B was carried out over 4 years between the ages of 7 months to 8 years. All three siblings demonstrated consistent B cell hyperactivity including elevated IgE levels and autoantibody producti

SUBMITTER: Foley CL 

PROVIDER: S-EPMC7854992 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature