Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

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SERWAS N. K., Kansu A., SANTOS-VALENTE E., KULOĞLU Z., Demir A., Yaman A., ...Daha Fazla

INFLAMMATORY BOWEL DISEASES, cilt.21, sa.1, ss.40-47, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1097/mib.0000000000000266
  • Dergi Adı: INFLAMMATORY BOWEL DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.40-47
  • Anahtar Kelimeler: LRBA, inflammatory bowel disease, autoimmunity, exome sequencing, INFLAMMATORY-BOWEL-DISEASE, GENE, MUTATIONS, ONSET, PROTEIN, NBEAL2, IDENTIFICATION, AUTOIMMUNITY, PATHOGENESIS, DOMAIN
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Background: Inflammatory bowel diseases (IBDs) denote a heterogeneous group of disorders associated with an imbalance of gut microbiome and the immune system. Importance of the immune system in the gut is endorsed by the presence of IBD-like symptoms in several primary immunodeficiencies. A fraction of early-onset IBDs presenting with more severe disease course and incomplete response to conventional treatment is assumed to be inherited in a Mendelian fashion, as exemplified by the recent discovery of interleukin (IL)-10 (receptor) deficiency.