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, TANIL; 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

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

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.44, sa.5, 2024 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 44 Sayı: 5
Basım Tarihi: 2024
Doi Numarası: 10.1007/s10875-024-01707-8
Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Veterinary Science Database
Anahtar Kelimeler: Immunodefciency, Inflammation, Very-early Onset Inflammatory Bowel Disease
Ankara Üniversitesi Adresli: Evet

Özet

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.