Chronic Granulomatous Disease

Definition 1

A rare genetic disorder with a predominantly X-linked recessive pattern of inheritance resulting in impaired phagocytic clearance of bacteria and fungi. It is caused by a defect in the phagocytic NADPH oxidase (phox) complex. The phagocytes can engulf pathogens but are unable to produce the microbicidal precursors needed to destroy them. Clinical signs of severe disease present in childhood with milder forms later in life. They include recurrent infection especially pneumonia, cervical lymphadenopathy and hepatosplenomegaly. The clinical course includes the appearance of granulomata in the skin and gastrointestinal or genitourinary tracts. The clinical prognosis is dependent on effectively treating and preventing infection. (NCI Thesaurus)

Definition 2

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. (NLM, Medical Subject Headings)

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