CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

Magg, T; Shcherbina, A; Arslan, DURAN; Desai, MM; Wall, S; Mitsialis, V; Conca, R; Unal, EKREM; Karacabey, N; Mukhina, A; Rodina, Y; Taur, PD; Illig, D; Marquardt, B; Hollizeck, S; Jeske, T; Gothe, F; Schober, T; Rohlfs, M; Koletzko, S; Lurz, E; Muise, AM; Snapper, SB; Hauck, F; Klein, C; Kotlarz, D

doi:10.1093/ibd/izz103

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

Magg T., Shcherbina A., Arslan D., Desai M., Wall S., Mitsialis V., ...Daha Fazla

INFLAMMATORY BOWEL DISEASES, cilt.25, sa.11, ss.1788-1795, 2019 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 25 Sayı: 11
Basım Tarihi: 2019
Doi Numarası: 10.1093/ibd/izz103
Dergi Adı: INFLAMMATORY BOWEL DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1788-1795
Anahtar Kelimeler: immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2
Erciyes Üniversitesi Adresli: Evet

Özet

Background: Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes.