Hematopoietic Cell Transplantation in a Patient With X‐Linked Chronic Granulomatous Disease With McLeod Phenotype

• DOI: 10.1111/petr.70086
• Publication Date: 2025-04-25T09:07:35Z
• Authors: Kentaro Fujimori; Soichiro Shimizu; Takashi Ishikawa; Yoshihiro Gocho; Hirotoshi Sakaguchi; Toru Uchiyama; Kazuhiko Nakabayashi; Daisuke Tomizawa; Masafumi Onodera; Kimikazu Matsumoto; Toshinao Kawai; Akihiro Iguchi
• Keywords: Chronic Granulomatous Disease

X-linked chronic granulomatous disease (X-CGD) may be associated with McLeod syndrome (MLS) as a contiguous gene deletion syndrome. MLS is characterized by the loss of XK protein along Kx antigen on red blood cell (RBC) surfaces and late-onset neurocognitive symptoms. RBCs in healthy donors express related surface; therefore, transfusion from random to patients poses risk sensitization, leading severe hemolysis. As radical treatment X-CGD hematopoietic transplantation (HCT), treating coexisting extremely challenging. A retrospective chart review was completed for case who underwent HCT. 7-year-old boy HCT matched unrelated donor (human leukocyte antigen, 7/8 matched). Rituximab added busulfan-based reduced intensity conditioning prevent sensitization. Donor were depleted bone marrow before infusion Neutrophil engraftment achieved day +19 full chimerism. No hemolytic events occurred, he living well 2 years after We able safely perform patient adding rituximab depleting marrow. The long-term impact unclear. However, improve prognosis quality life reducing recurrent infections caused X-CGD. Moreover, this method non-invasive, relatively simple, easily implementable.