title: Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.
abstract: Alterations 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 theIL10RBgene, 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.
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Neslihan Edeer
authors.identifier: 0000-0002-2202-7082
authors.initials: NE
authors.lastname: Karaca
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Guzide
authors.initials: G
authors.lastname: Aksu
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Ezgi
authors.initials: E
authors.lastname: Ulusoy
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Serap
authors.identifier: 0000-0002-8446-0834
authors.initials: S
authors.lastname: Aksoylar
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Salih
authors.initials: S
authors.lastname: Gozmen
authors.affiliation: Department of Pediatric Allergy and Immunology Department, Dr. Behcet Uz Children Training and Research Hospital, Izmir, Turkey.
authors.forename: Ferah
authors.initials: F
authors.lastname: Genel
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Sanem
authors.initials: S
authors.lastname: Akarcan
authors.affiliation: Department of Pediatric Allergy and Immunology Department, Dr. Behcet Uz Children Training and Research Hospital, Izmir, Turkey.
authors.forename: Nesrin
authors.initials: N
authors.lastname: Gulez
authors.affiliation: Research Center for Molecular Medicine of the Austrian Academy, Vienna, Austria.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Hirschmugl
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Savas
authors.initials: S
authors.lastname: Kansoy
authors.affiliation: Research Center for Molecular Medicine of the Austrian Academy, Vienna, Austria.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.affiliation: Faculty of Medicine, Department of Pediatric Immunology, Ege University, Izmir, Turkey.
authors.forename: Necil
authors.identifier: 0000-0002-9196-3819
authors.initials: N
authors.lastname: Kutukculer