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Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency

Authors :
Ömer Faruk Beşer
Ayca Kiykim
Ali Islek
Serdar Nepesov
Gokhan Baysoy
Elif Karakoc-Aydiner
Sezin Aydemir
Yöntem Yaman
Haluk Cokugras
Bernice Lo
Yasemin Kendir Demirkol
Safa Baris
Satanay Hubrack
Fügen Çullu Çokuğraş
Ahmet Ozen
Source :
Journal of Clinical Immunology. 41:1406-1410
Publication Year :
2021
Publisher :
Springer Science and Business Media LLC, 2021.

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]. Sidra Precision Medicine Program

Details

ISSN :
15732592 and 02719142
Volume :
41
Database :
OpenAIRE
Journal :
Journal of Clinical Immunology
Accession number :
edsair.doi.dedup.....567d8f10960dce77ea7682b64e613444