Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency

Salzer, Elisabeth; KANSU TANCA, AYDAN; Sic, Heiko; Majek, Peter; İKİNCİOĞULLARI, KAMİLE; DOĞU, ESİN; Prengemann, Nina; Santos-Valente, Elisangela; Pickl, Winfried; Bilic, Ivan; Ban, Sol; KULOĞLU, ZARİFE; Demir, ARZU; ENSARİ, ARZU; Colinge, Jacques; Rizzi, Marta; Eibel, Hermann; Boztug, Kaan

doi:10.1016/j.jaci.2014.02.034

Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency

Salzer E., KANSU TANCA A., Sic H., Majek P., İKİNCİOĞULLARI K. A., DOĞU E. F., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.133, sa.6, ss.1651-1671, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 133 Sayı: 6
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.jaci.2014.02.034
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1651-1671
Anahtar Kelimeler: IL-21, early-onset inflammatory bowel disease, common variable immunodeficiency, exome sequencing, RENAL-CELL CARCINOMA, INTERLEUKIN-21 RECEPTOR, METASTATIC MELANOMA, NK CELLS, B-CELLS, PHASE-I, MATURATION, MUTATIONS, PROTEIN, IMMUNOGLOBULIN
Ankara Üniversitesi Adresli: Evet

Özet

Background: Alterations of immune homeostasis in the gut can result in development of inflammatory bowel disease (IBD). Recently, Mendelian forms of IBD have been discovered, as exemplified by deficiency of IL-10 or its receptor subunits. In addition, other types of primary immunodeficiency disorders might be associated with intestinal inflammation as one of their leading clinical presentations.