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

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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.

About the authors

A. A. Bazaev

The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: bzvalxndr@mail.ru
ORCID iD: 0000-0003-0967-395X

Alexander A. Bazaev, a pediatrician of the Department of Hematopoietic Stem Cell Transplantation No.2 

1 Samory Mashela St., Moscow 117997, Russia

Russian Federation

S. N. Kozlovskaya

The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Email: lana.n.kozlovskaya@gmail.com
ORCID iD: 0000-0002-1754-1220

Moscow

Russian Federation

A. P. Vasilyeva

The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Email: anna.vasilieva1988@gmail.com
ORCID iD: 0000-0003-3949-248X

Moscow

Russian Federation

Yu. V. Skvortsova

The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Email: yuscvo@mail.ru
ORCID iD: 0000-0002-0566-053X

Moscow

Russian Federation

D. N. Balashov

The Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Email: bala8@yandex.ru
ORCID iD: 0000-0003-2689-0569

Moscow

Russian Federation

References

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Copyright (c) 2025 Bazaev A.A., Kozlovskaya S.N., Vasilyeva A.P., Skvortsova Y.V., Balashov D.N.

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