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) identifier identifier identifier

  • 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, IMMUNE DYSREGULATION, T-CELL, MUTATIONS, PROTEIN, COSTIMULATION, ENTEROPATHY, INDUCTION, HUMANS, RLTPR, LRBA
  • 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.