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., ...More

INFLAMMATORY BOWEL DISEASES, vol.25, no.11, pp.1788-1795, 2019 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 25 Issue: 11
Publication Date: 2019
Doi Number: 10.1093/ibd/izz103
Title of Journal : INFLAMMATORY BOWEL DISEASES
Page Numbers: pp.1788-1795
Keywords: immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2, IMMUNE DYSREGULATION, T-CELL, MUTATIONS, PROTEIN, COSTIMULATION, ENTEROPATHY, INDUCTION, HUMANS, RLTPR, LRBA

Abstract

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.