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

J Allergy Clin Immunol

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

Published: June 2019

FCHO1 deficiency is a newly identified genetic condition that results in a combined immune deficiency.
It is inherited in an autosomal recessive manner, meaning that both parents must carry the gene for a child to be affected.
The condition is linked to problems with clathrin-mediated endocytosis, a process essential for cells to take in nutrients and signaling molecules.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701838	PMC
http://dx.doi.org/10.1016/j.jaci.2019.02.014	DOI Listing

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