Article detail · 2024
Journal of Clinical Immunology
YÖKSİS YÖKSİS article record
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English (OpenAlex)
The 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.
WoS (JCR) and Scopus (SJR) quartiles by ISSN and publication year. · 2024
Scopus (SJR) / WoS (JCR)