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., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.133, no.6, pp.1651-1671, 2014 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 133 Issue: 6
Publication Date: 2014
Doi Number: 10.1016/j.jaci.2014.02.034
Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1651-1671
Keywords: 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 University Affiliated: Yes

Abstract

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.