| p22phox deficiency |
Pneumonia due to immunodeficiency; Hepatic abscesses due to immunodeficiency; Hepatomegaly; Splenomegaly; Perirectal abscesses due to immunodeficiency; Osteomyelitis due to immunodeficiency; Dermatitis, infectious, due to immunodeficiency Impetigo; Eczematoid dermatitis; Discoid lupus in carriers or adults with mild disease; Cellulitis due to immunodeficiency; Recurrent bacterial infections; Fungal infections, recurrent; Absence of bactericidal oxidative respiratory burst in phagocytes; Abscess formation in any organ; Lymphadenitis; Lymphadenopathy; Aspergillus infections; Klebsiella infections; Staphylococcus aureus infections; E. coli infections; Burkholderia cepacia infections; Serratia marcescens infections; Tissue biopsy shows granulomas; Biopsy shows lipid-laden macrophages; Deficiency or absence of cytochrome b(-245); Deficiency or absence of p22-phox protein; Negative nitroblue tetrazolium (NBT) reduction test; Decreased activity of NADPH oxidase |
Congenital defects of Phagocyte number, function or both |
Autosomal recessive |