Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency
Beşer, Ömer Faruk
Çullu Çokuğraş, Fügen
Karakoç Aydıner, Elif
Hubrack, Satanay Z.
Kendir Demirkol, Yasemin
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CitationAydemir, S., İşlek, A., Nepesov, S., Yaman, Y., Baysoy, G., Beşer, Ö. F. ... Özen, A. (2021). Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency. Journal of Clinical Immunology, 41(6), 1406-1410. https://dx.doi.org/10.1007/s10875-021-01042-2
To the Editor: FCH And Mu Domain Containing Endocytic Adaptor 1 (FCHO1) gene encodes a protein that plays a critical role in clathrin-mediated endocytosis, a biological process that maintains cellular functions in signaling, nutrient- and growth factor- uptake, and diferentiation [1–3]. Recently, biallelic mutations in FCHO1 were linked to a combined immunodefciency that is characterized by recurrent infections caused by bacteria, viruses, mycobacteria, fungi, T cell lymphopenia, and hypogammaglobulinemia [4, 5].