Journal: Journal of Clinical Immunology
Summary:
- 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
- Pneumonia, lymphadenitis and skin abscesses were common clinical manifestations, Staphylococcus, Aspergillus and Candida were common organisms isolated
- Acanthocytosis and RBC alloantibodies was seen in most patients, anemia was managed with iron supplementation and transfusions
- Mild to moderate neurological involvement was seen and elevated CPK levels was documented for most patients
- 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