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

Atıf İçin Kopyala

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

INFLAMMATORY BOWEL DISEASES, cilt.25, ss.1788-1795, 2019 (SCI İndekslerine Giren Dergi)

Cilt numarası: 25 Konu: 11
Basım Tarihi: 2019
Doi Numarası: 10.1093/ibd/izz103
Dergi Adı: INFLAMMATORY BOWEL DISEASES
Sayfa Sayıları: ss.1788-1795

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.