Congenital defects of phagocyte function

Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected patients are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some escape diagnosis until adulthood. The major disorders resulting from defects of phagocytic function. (Up to date)

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder characterized by severe, recurring infections with formation of granulomas. Phagocytic cells ingest but cannot digest bacteria or fungi due to a malfunction of the nicotinamide adenosine dinucleotide phosphate (NADPH) oxidase system.

Panel test

1. Neutrophil Oxidative Burst Assay (DHR): Aid in screening for chronic granulomatous disease (CGD)
2. Genetic tests:
   • CYBB sequencing
   • NCF1 Exon 2 GT deletion
     1. Rac 2 deficiency
     2. G6PD deficiency class I