Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion-Reference-Cited by-同舟云学术

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

Published:2024-04-27 Issue:5 Volume:44 Page:
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Tuna Kırsaçlıoğlu Ceyda^ORCID,Frohne Alexandra^ORCID,Kuloğlu Zarife^ORCID,Kristofersdottir Isidora,Demir Engin^ORCID,Altuntaş Cansu^ORCID,Haskoloğlu Zehra Şule^ORCID,Çobanoğlu Fatma Nazan^ORCID,Kendirli Tanıl^ORCID,Özdemir Halil^ORCID,Özçakar Zeynep Birsin^ORCID,Savaş Berna^ORCID,Doğu Figen^ORCID,İkincioğulları Aydan^ORCID,Boztug Kaan^ORCID,Kansu Aydan^ORCID

Abstract

AbstractThe monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 (RIPK1) protein is an important signalling molecule in inflammation and cell death pathways. Its deficiency may lead to various clinical features linked to immunodeficiency and/or inflammation, including IBD. Here, we discuss an infant with malnutrition, VEO-IBD, recurrent infections and polyathritis who has a homozygous partial deletion in RIPK1 gene.

Funder

Ankara University

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10875-024-01707-8.pdf

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