title: Unrelated donor hematopoietic stem cell transplantation for infantile enteropathy due to IL-10/IL-10 receptor defect.
abstract: Recent advances in genetic diagnosis have identified mutations in gene encoding interleukin-10 (IL-10) and IL-10 receptor (IL-10R) proteins as a cause for early-onset enterocolitis leading to hyperinflammatory immune response. Allogeneic HSCT offers a potential cure; however, it was only performed in a few infants and mainly from family-related donors. We report a case of a girl who presented very early in life with severe infantile enterocolitis. Gene sequencing confirmed IL-10R defect. Her older sister died at 13 months of age from severe undiagnosed enterocolitis. There was no family donor. An unrelated search identified a potential 10/10 high-resolution HLA-matched donor. There was some delay in donor activation because IL-10R defect was not on the standard list of indications for unrelated HSCT. Our patient received the unrelated HSCT at seven months of age, and she is currently nine months after transplant and doing very well. Because HSCT is the curative option of choice for this disorder, we encourage adding IL-10 and IL-10R protein defects to the list of HSCT indications for unrelated donor procurement.
authors.affiliation: Division of Hematology/Oncology/BMT, Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Adam
authors.initials: A
authors.lastname: Gassas
authors.forename: Sarah
authors.initials: S
authors.lastname: Courtney
authors.forename: Christine
authors.initials: C
authors.lastname: Armstrong
authors.forename: Erilda
authors.initials: E
authors.lastname: Kapllani
authors.forename: Aleixo M
authors.initials: AM
authors.lastname: Muise
authors.forename: Tal
authors.initials: T
authors.lastname: Schechter
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D016753:Interleukin-10 / Q000235:genetics*; D007391:International Cooperation; D007410:Intestinal Diseases / Q000235:genetics / Q000276:immunology*; D009154:Mutation; D053701:Receptors, Interleukin-10 / Q000235:genetics*; D012042:Registries; D009927:Tissue and Organ Procurement / Q000592:standards; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous; D061349:Unrelated Donors
chemical_list: C508609:IL10 protein, human; D007166:Immunosuppressive Agents; D053701:Receptors, Interleukin-10; D016753:Interleukin-10
keywords: IL-10/IL-10 receptor defect; allogeneic stem cell transplantation; unrelated donors