Hematopoietic cell transplantation for inborn errors of immunity from the Hokkaido area

Abstract

More than 400 causative genes cause inborn errors of immunity. Severe forms of the disease require hematopoietic cell transplantation. The incidence of inborn errors of immunity is low and each disease is rare with different pathogeneses. The strategy for hematopoietic cell transplantation needs to be considered for each patient. In particular, hematopoietic cell transplantation is often performed in infants, and improvements in the choice of conditioning regimens and management of complications are necessary. A total of 54 hematopoietic cell transplantation procedures were performed in 47 patients (40 boys and 7 girls) in Hokkaido between April 1993 and March 2023. The diseases included 12 cases of immunodeficiencies affecting cellular and humoral immunity, 9 combined immunodeficiencies with associated or syndromic features, 2 predominantly antibody deficiencies, 6 immune dysregulations, 16 congenital defects of phagocyte number or function, one defect in intrinsic and innate immunity, and one autoinflammatory disorder. Considering the regional characteristics of Hokkaido, it is possible to include a long-term follow-up. Through a survey of hematopoietic cell transplantation for inborn errors of immunity in Hokkaido over the past 30 years, we describe these challenges.