F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Calzoni, Enrica; Platt, Craig D; Keles, Sevgi; Kuehn, Hye Sun; Beaussant-Cohen, Sarah; Zhang, Yu; Pazmandi, Julia; Lanzi, Gaetana et al. · J Allergy Clin Immunol · 2019

case_report · Level V

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Abstract

FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impaired clathrin-mediated endocytosis

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