A case of allogeneic hematopoietic stem cell transplantation in a patient with hyper-IgE syndrome

Abstract

Classic hyper-IgE syndrome (due to a mutation in the STAT3 gene) is a primary immunodeficiency associated with multisystem disorder affecting organs and tissues. To date, there are only few published cases of hematopoietic stem cell transplantation for this disease, which does not allow us to fully assess the main effects of transplantation in this group of patients. This article presents a clinical case of hematopoietic stem cell transplantation from an unrelated donor with TCRab/CD19 depletion in a patient with hyper-IgE syndrome, which was carried out at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications. At 5 years after treatment, the patient has a good graft function and no signs of immunodeficiency, and infectious complications remain controlled. However, despite accompanying bisphosphonate therapy and the absence of osteopenia signs according to densitometry, the patient still has musculoskeletal disorders, associated with spontaneous long bone fractures and severe joint deformities.