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, ss.1788-1795, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • 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.