Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial <i>RIPK1</i> Deletion

Tuna Kırsaçlıoğlu, CEYDA; Frohne, Alexandra; Kuloğlu, ZARİFE; Kristofersdottir, Isidora; Demir, Engin; Altuntaş, Cansu; Haskoloğlu, ZEHRA; Çobanoğlu, Fatma; Kendirli, Tanıl; Özdemir, HALİL; Özçakar, ZEYNEP; Savaş, Berna; Doğu, ESİN; İkincioğulları, Aydan; Boztug, Kaan; Kansu, AYDAN

doi:10.1007/s10875-024-01707-8

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial <i>RIPK1</i> Deletion

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Tuna Kırsaçlıoğlu C., Frohne A., Kuloğlu Z., Kristofersdottir I., Demir E., Altuntaş C., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.44, no.5, 2024 (SCI-Expanded)

Publication Type: Article / Article
Volume: 44 Issue: 5
Publication Date: 2024
Doi Number: 10.1007/s10875-024-01707-8
Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Veterinary Science Database
Keywords: Immunodefciency, Inflammation, Very-early Onset Inflammatory Bowel Disease
Ankara University Affiliated: Yes

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.