Key Pathologic feature: infection with catalase-positive bacteria or with fungi
Probable mechanism: defective production of superoxide by neutrophils
Clinical features:
(1) recurrent infections, typically starting during infancy
(2) hepatosplenomegaly
(3) generalized lymphadenopathy
(4) anemia
(5) hypergammaglobulinemia
(6) sites of infection show granulomatous inflammation with lipid-bearing histiocytes
Common organisms associated with infection:
(1) Staphylococcus aureus
(2) Burkholderia
(3) Salmonella species
(4) Nocardia sp
(5) Serratia or other Enterobacteriaceae
(6) Streptococcus
(7) Aspergillus species
(8) Candida species
Infections may occur anywhere in the body:
(1) subcutaneous abscesses
(2) liver abscesses
(3) pneumonia
(4) lung abscess
(5) osteomyelitis with abscess
(6) brain abscess
(7) perirectal abscess
(8) colitis
(9) lymphadenitis
(10) sepsis
(11) post-operative wound infections
