Article
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Journal of clinical immunology - 1 Jan 2021
Foley Corinne L, Al Remeithi Sareea S, Towe Christopher T, Dauber Andrew, Backeljauw Philippe F, Tyzinski Leah, Kumar Ashish R, Hwa Vivian
Abstract excerpt
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...
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