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Inherited human ezrin deficiency impairs adaptive immunity

8 Jun 2023

Abstract excerpt

Background Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the life-threatening consequences of some IEI, their genetic cause remains unknown in many patients. Objective We investigated a patient with an IEI of unknown genetic etiology. Methods Whole-exome sequencing identified a homozygous missense mutation of the gene...

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PMID: 37301410
DOI: 10.1016/j.jaci.2023.05.022

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