F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30822429.
- Also identified by DOI 10.1016/j.jaci.2019.02.014 and PMC identifier 6701838.
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Abstract
FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impaired clathrin-mediated endocytosis
Medical subject headings
- Membrane Proteins
- Primary Immunodeficiency Diseases