Skip to main content

Table 2 Clinical, radiographical, laboratory and genetic data for CGD of the 3 patients

From: Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children

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)
  1. CGD chronic granulomatous disease, DHR dihydrorhodamine-1,2,3, Igs immunoglobulins, NK natural killer