Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

Basit Öğe Kaydı
dc.contributor.authorKaraca, Neslihan Edeer
dc.contributor.authorAksu, Guzide
dc.contributor.authorUlusoy, Ezgi
dc.contributor.authorAksoylar, Serap
dc.contributor.authorGozmen, Salih
dc.contributor.authorGenel, Ferah
dc.contributor.authorAkarcan, Sanem
dc.contributor.authorGulez, Nesrin
dc.contributor.authorHirschmugl, Tatjana
dc.contributor.authorKansoy, Savas
dc.contributor.authorBoztug, Kaan
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T22:57:57Z
dc.date.available2019-10-27T22:57:57Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractAlterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.en_US
dc.identifier.doi10.1155/2016/5459029
dc.identifier.issn2090-6609
dc.identifier.issn2090-6617
dc.identifier.issn2090-6609en_US
dc.identifier.issn2090-6617en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://doi.org/10.1155/2016/5459029
dc.identifier.urihttps://hdl.handle.net/11454/51389
dc.identifier.wosWOS:000383493700001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherHindawi Ltden_US
dc.relation.ispartofCase Reports in Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleEarly Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Casesen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu