Table 2 Clinical, radiographical, laboratory and genetic data for CGD of the 3 patients
CGD patient | Case 1 | Case 2 | Case 3 |
|---|---|---|---|
Antecedent history | Pneumonia at 3 months old, eczema and seasonal rhinitis at one year old | Eczema and seasonal rhinitis at 3 years old | Perianal abscesses and eczema at 3 months old |
Igs | IgG 12.2 g/L, IgM1.72 g/L, IgA2.59 g/L, IgE 598.9 IU/mL | IgG 26.8 g/L, IgM1.12 g/L, IgA4.55 g/L, IgE 3000 IU/mL | IgG 26.6 g/L, IgM1.29 g/L, IgA4.23 g/L, IgE 365.9 IU/mL |
Lymphocyte subsets in peripheral blood | NK cells (9.3%), B cell (11.9%); CD4+ cells (43.2%), CD8+ cells (32.85%) | NK cells (4%), B cell (14%); CD4+ cells (39%), CD8+ cells (37%) | NK cells (11%), B cell (17%); CD4+ cells (33%), CD8+ cells (36%) |
DHR test | No uptake in neutrophil oxidative burst after phorbolmyristate acetate stimulation | No uptake in neutrophil oxidative burst after phorbolmyristate acetate stimulation | No uptake in neutrophil oxidative burst after phorbolmyristate acetate stimulation |
Gene mutation | NCF2 gene (compound heterozygosity mutation c.278 A > T and c.475delA) | NCF1 gene (homozygous mutation c.541delG) | NCF1 gene (homozygous mutation c.541delG) |