Early Diagnosis and Hematopoietic Stem CellTransplantation for IL10R Deficiency Leading to VeryEarly-Onset Inflammatory Bowel Disease AreEssential in Familial Cases

Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl wasreferred 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 siblingswere lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophiland lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropeniaand classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronicgranulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onsetcolitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. Amutation at position c.G477A in exon of theIL10RBgene, resulting in a stop codon at position p.W159X, was identified. The patientunderwent 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 patientswith early-onset enterocolitis