Chronic Granulomatous Disease

Definitive 

Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following:

1. Mutation in gp91, p22, p47 or p67 phox
2. Absent mRNA for one of the above genes by northern blot analysis
3. Maternal cousins, uncles or nephews with an abnormal NBT or respiratory burst

Probable 

Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following:

1. Deep seated infection (liver, perirectal or lung abscess; adenitis; or osteomyelitis) due to staphylococcus, serratia marcescens, candida or aspergillus
2. Diffuse granulomata in respiratory, gastrointestinal or urogenital tracts
3. Failure to thrive and hepatosplenomegaly or lymphadenopathy

Spectrum of disease 

Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most patients with X-CGD develop failure to thrive, severe bacterial adenitis, abscesses or osteomyelitis within the first year of life. Pneumonia and lymphadenitis due to catalase-positive organisms (particularly Staphylococcus) or fungi are the most common infections. Symptoms of intestinal or urinary tract obstruction can be caused by granuloma formation. Rarely, in both the X-linked and autosomal recessive forms, the first severe symptoms are not recognized until adulthood.

Differential diagnosis 

1. LAD
2. Sarcoidosis
3. Hyper IgE syndrome