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:
- Mutation in gp91, p22, p47 or p67 phox
- Absent mRNA for one of the above genes by northern blot analysis
- 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:
- Deep seated infection (liver, perirectal or lung abscess; adenitis; or osteomyelitis) due to staphylococcus, serratia marcescens, candida or aspergillus
- Diffuse granulomata in respiratory, gastrointestinal or urogenital tracts
- 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
- LAD
- Sarcoidosis
- Hyper IgE syndrome