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Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion
Ceyda Tuna Kırsaçlıoğlu1, Alexandra Frohne2, Zarife Kuloğlu3
1Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara University School of Medicine, Ankara, Türkiye, Turkey. ckirsaclioglu@ankara.edu.tr.
Abstract:
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.
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