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

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2024年4月27日

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

摘要

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.