Research ArticleIMMUNODEFICIENCY

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

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Science Immunology  10 Jul 2020:
Vol. 5, Issue 49, eabc3979
DOI: 10.1126/sciimmunol.abc3979

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Tempering lymphocyte activation

Diagnosis and treatment of inborn errors in immunity remains a challenge. Here, Salzer, et al. have studied two siblings who were hospitalized for recurrent pediatric infections. By carrying out exome sequencing and functional analyses, they have identified homozygous loss-of-function mutations in genes encoding the protein HEM1 in both individuals. HEM1 is a component of actin-remodeling complexes that have a wide range of functions, from cell migration to cell division. By studying immune cells from these individuals and by generating HEM1-deficient mice, the authors have established HEM1 as a key regulator of T and B cell functions. They have characterized in-depth the role of HEM1 in B cells and propose that HEM1 modulates signaling downstream of the B cell receptor.

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