Table 9

Approach to Diagnosis of CGD

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

NBT = nitroblue tetrazolium slide test; ESR = erythrocyte sedimentation rate; CRP = C reactive protein; GI = gastrointestinal system; GU = genitourinary system

Song et al. Clinical and Molecular Allergy 2011 9:10   doi:10.1186/1476-7961-9-10