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Table 9 Approach to Diagnosis of CGD

From: Chronic granulomatous disease: a review of the infectious and inflammatory complications

Clinical information
   1. Severe, recurrent pulmonary and hepatic infections including abscess formation
   2. Specific etiologic pathogens such as B. cepacia, Nocardia, Aspergillus etc
   3. Granulomatous lesions of the GI tract or the GU system
Laboratory abnormalities
   1. Anemia
   2. Polyclonal hyperglobulinemia
   3. Elevated acute phase reactants such as ESR or CRP
   4. Normal studies of T and B lymphocyte immunity
Diagnostic test
   1. NBT test (no longer used)
   2. DHR
Molecular tests
   1. Immunoblotting or flow cytometry
   2. Molecular techniques including gene sequencing and mutational analyses for subtype
  1. NBT = nitroblue tetrazolium slide test; ESR = erythrocyte sedimentation rate; CRP = C reactive protein; GI = gastrointestinal system; GU = genitourinary system