Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency

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2021Author
Aydemir, Sezinİşlek, Ali
Nepesov, Serdar
Yaman, Yöntem
Baysoy, Gökhan
Beşer, Ömer Faruk
Çullu Çokuğraş, Fügen
Barış, Safa
Karakoç Aydıner, Elif
Çokuğraş, Haluk
Hubrack, Satanay Z.
Kendir Demirkol, Yasemin
Lo, Bernice
Kıykım, Ayça
Özen, Ahmet
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Aydemir, 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/s10875-021-01042-2Abstract
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].