Successful Outcome With Second Hematopoietic Stem Cell Transplantation in A Patient With IL-10R Deficiency

Abstract

nterleukin-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