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B-cell–specific STAT3 deficiency:Insight into the molecular basis of autosomal-dominant hyper-IgE syndrome

Abstract

Autosomal-dominant hyper-IgE syndrome (AD-HIES) is a rare multisystemic primary immunodeficiency disorder characterized by recurrent mucocutaneous candidiasis, Staphylococcal abscesses, pneumonia, and extremely high levels of IgE.1 It is caused by heterozygous loss-of-function mutations in the gene encoding the transcription factor signal transducer and activator of transcription 3 (STAT3). STAT3 acts downstream of many cytokine receptors key to lymphocyte function including those for IL-6, IL-10, and IL-21 and has emerged as a key regulator of multiple lymphocyte lineages including CD4 and CD8 T cells.1

Type Journal
Authors Kane,A.; Lau, A.; Brink,R.; Tangye, SG.; Deenick, EK.
Publisher Name JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Published Date 2016-11-01 00:00:00
Published Volume 138
Published Issue 5
Published Pages 1455-1458
Status Published in-print
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/13427