Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency

Autor:	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
Rok vydání:	2021
Předmět:	medicine.medical_specialty Guillain-Barre syndrome business.industry Immunology MEDLINE medicine.disease Inflammatory bowel disease Medical microbiology Guillain Barre Syndrome Internal medicine Bowel Disease medicine Immunology and Allergy business FCHO1 Deficiency
Zdroj:	Journal of Clinical Immunology. 41:1406-1410
ISSN:	1573-2592 0271-9142
DOI:	10.1007/s10875-021-01042-2
Popis:	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
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567d8f10960dce77ea7682b64e613444 https://doi.org/10.1007/s10875-021-01042-2 Zobrazit plný text záznamu Full text from SpringerLink