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Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency

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Date

2021

Author

Aydemir, Sezin
İşlek, 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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Citation

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/s10875-021-01042-2

Abstract

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].

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Q1

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Source

Journal of Clinical Immunology

Volume

41

Issue

6

URI

https://dx.doi.org/10.1007/s10875-021-01042-2
https://hdl.handle.net/20.500.12511/8450

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