| Autosomal recessive p67phox 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; bacterial infections, recurrent; 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; presence of cytochrome b(-245); deficiency or absence of p47-phox protein (type I); negative nitroblue tetrazolium (NBT) reduction test; decreased activity of NADPH oxidase; deep-seated abscesses; lymphadenopathy; recurrent enlargement of neck lymph nodes; esophageal outlet, pyloric, and/or urethral obstruction; persistent diarrhea; granulomatous colitis; perianal abscess; recurrent skin furunculosis; mucous membrane infections; conjunctivitis; rhinitis; stomatitis; chronic cough |
Congenital defects of Phagocyte number, function or both |
Autosomal recessive |