Chronic Granulomatous Disease with McLeod’s phenotype

Reference: Lhomme, F., Peyrard, T., Babinet, J. et al. Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series. J Clin Immunol (2020)

Journal: Journal of Clinical Immunology


  1. Eight X linked CGD patients with McLeod’s phenotype which was diagnosed based of large deletion of Xp21.1 locus, alloimmunization and weak Kell expression were retrospectively analysed for clinical and genetic features
  2. Pneumonia, lymphadenitis and skin abscesses were common clinical manifestations, Staphylococcus,  Aspergillus and Candida were common organisms isolated
  3. Acanthocytosis and RBC alloantibodies was seen in most patients, anemia was managed with iron supplementation and transfusions
  4. Mild to moderate neurological involvement was seen and elevated CPK levels was documented for most patients 
  5. 4 patients were transplanted with myeloablative conditioning  , one of whom expired due to respiratory distress, 2 non-transplanted patients are alive on antimicrobial prophylaxis

Bottom line: Authors have recommendations for management of CGD patients with McLeod’s Phenotype as timely diagnosis and appropriate management of anaemia is critical for a successful HSCT