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Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency

Bone Marrow Transplantation volume 51, pages 615–616 (2016)Cite this article

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Interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies, which are caused by loss of function mutations in the related genes, are primary immunodeficiencies that result in severe dysregulation of the immune system.1, 2 Patients usually present early in life with an inflammatory bowel disease-like phenotype accompanied with severe perianal disease. Other clinical features of the disease are chronic folliculitis, recurrent respiratory diseases and arthritis.1, 2, 3, 4, 5 Because of poor long-term prospects of the disease, and its resistance to conventional immunosuppressive therapies, allogeneic hematopoietic stem cell transplantation (HSCT) has been performed and proved to be a curative therapeutic approach in several patients.1, 3 Here, we report a child with IL-10R deficiency who underwent second hematopoietic stem cell transplantation using non-myeloablative conditioning regimen due to secondary graft failure.

A 16-month-old boy, the fourth child of consanguineous parents, was admitted to our hospital with recurrent ulceration, abscesses and fissures in the perianal region. He had also chronic diarrhea, malnutrition and growth retardation developed after 2.5 months of age. He was hospitalized several times and underwent surgical interventions for anal fistulas at another center. On admission, his weight was 7500 g (<third percentile), height: 69 cm (<third percentile) and head circumference: 42 cm (<third percentile), and severe anal ulcers were observed. Hemogram showed: hemoglobin 6.2 g/dL, leukocyte 15 900/mm3 and platelets 231 000/mm3 with normal absolute neutrophil and lymphocyte numbers. IgA was 214 (30–107), IgG 1720 (605–1430), IgM 316 (66–228) and IgE was 285. Lymphocyte subset analysis showed an increased percentage and number of CD19 positive cells (45% (17–41%) and 3825 cells (600–3100), respectively), and lymphocyte proliferative response was found to be higher than the healthy control. In colonoscopy, deep ulcers, inflammatory polyps and mucosal edema were detected throughout the entire colon. The histopathological analysis of the colon mucosa revealed ulceration, infiltration with mixed inflammatory cells, few cryptitis and destruction of crypts. Molecular analysis showed a homozygous defect in the alpha subunit of IL-10R (c.G477A, p Trp.159X). The patient was treated with anti-inflammatory agents including corticosteroids, mesalazine and azathioprine, however, none of these therapies induced remission or long-term improvement. Broad spectrum antibiotics were administered simultaneously for septicemia and perianal abscess. Nevertheless, the diarrhea was not controlled and he could not gain weight. Hence, parenteral nutrition was started and mesenchymal stem cell therapy was performed in order to control the inflammation before HSCT. This provided a relative improvement in the frequency of diarrhea and consistency of stool.

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Authors and Affiliations

  1. Division of Bone Marrow Transplantation, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    B Kuşkonmaz & D U Çetinkaya

  2. Division of Immunology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    D Ayvaz, B Erman & İ Tezcan

  3. Division of Gastroenterology, Department of Pediatrics, Hepatology and Nutrition, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    Y Aydemir & H Özen

  4. Division of Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    B Tavil

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  1. B Kuşkonmaz
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  2. D Ayvaz
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  8. D U Çetinkaya
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Correspondence to D U Çetinkaya.

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Kuşkonmaz, B., Ayvaz, D., Aydemir, Y. et al. Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency. Bone Marrow Transplant 51, 615–616 (2016). https://doi.org/10.1038/bmt.2015.310

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