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Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens

Bone Marrow Transplantation volume 45, pages 209–211 (2010)Cite this article

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by the deficient generation of reactive oxygen metabolites by phagocytic cells. In about 70% of patients, the disease is X-linked and caused by mutations in CYBB (cytochrome B beta subunit or gp91phox; OMIM 300481).1 If a large deletion includes the adjacent XK gene (OMIM +314850), the disorder is associated with a condition called McLeod phenotype, which is defined by the reduced expression of the Kell blood-group antigens on red blood cells (RBCs) and the absence of the XK protein.2 As RBCs of any healthy donor express the XK protein and the associated Kx antigen, transfusions in these patients will lead to sensitization to Kx and may induce severe hemolytic transfusion reactions on repeat transfusion.3, 4 Transfusions hence require donations from donors with the McLeod phenotype, which, however, are extremely rare.5

We report on a patient with CGD and the McLeod phenotype, who underwent successful hematopoietic stem cell transplantation (HSCT) in spite of previous sensitization to Kx. At the age of 3 months, the boy (blood group: A2, Rh positive, K negative) had been transfused with RBCs (A1, Rh positive, K positive) because of unexplained anemia. CGD was diagnosed at the age of 3 years because of a history of recurrent pneumonia and generalized lymphadenopathy. At 9 years of age, lung surgery was required because of pulmonary aspergillosis. Granulocyte transfusions from two donors (A2, Rh positive, K negative; A1, Rh positive, K positive) were administered preoperatively. When transfused 2 weeks later with RBCs (A1, Rh positive, K negative), the patient experienced an acute hemolytic reaction with hemoglobinuria and a marked elevation of lactate dehydrogenase (LDH) levels (950 U/l; normal: <250U/l). Besides the detection of anti-A1 antibodies (titer 1:16), antibodies against the Kx antigen (titer 1:8) and against the K antigen (titer 1:16) were noted. Patient RBCs revealed an absence of expression of the Kx-antigen, leading to the diagnosis of the McLeod phenotype. In spite of continued antifungal prophylaxis, the patient developed chronic pulmonary disease, and at 13 years of age, he was referred for treatment by allogeneic HSCT.

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Author notes

  1. W A Flegel

    Present address: 5Current address: Department of Transfusion Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA,

  2. J F Freihorst

    Present address: 6Current address: Department of Paediatrics, Ostalb-Klinikum, Aalen, Germany,

  3. A Seltsam

    Present address: 7Current address: DRK-Blutspendedienst Institut Springe, Springe, Germany,

Authors and Affiliations

  1. Department of Paediatrics, University Hospital Ulm, Ulm, Germany

    M Hönig, K-M Debatin, A S Schulz & W Friedrich

  2. Institute for Clinical Transfusion Medicine and Immunogenetics and Institute of Transfusion Medicine, University Hospital Ulm, Ulm, Germany

    W A Flegel & K Schwarz

  3. Department of Paediatrics, Hannover Medical School, Hannover, Germany

    J F Freihorst & U Baumann

  4. Department of Transfusion Medicine, Hannover Medical School, Hannover, Germany

    A Seltsam

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  1. M Hönig
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Correspondence to W Friedrich.

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Hönig, M., Flegel, W., Schwarz, K. et al. Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens. Bone Marrow Transplant 45, 209–211 (2010). https://doi.org/10.1038/bmt.2009.115

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