ImmunoDeficiency Resource (IDR)

The hallmark of disease are infections with catalase-positive organisms, especially deep-seated abscesses, osteomyelitis, and chronic granulomata. It may mimic inflammatory bowel disease and lead to malabsorption and obstruction of the bowel. Liver abcess is a common first presentation. Early manifestations include chronic and recurrent pyogenic infections during first 2 years of life, lymphadenopathy, recurrent enlargement of lymph nodes of neck. Later manifestations include gastrointestinal symptoms: hepatomegaly/hepatosplenomegaly, esophageal outlet, pyloric, and/or urethral obstruction, persistent diarrhea - granulomatous colitis, perianal abscesses or rectal fistulous tracts. Skin manifestations include eczematoid dermatitis, impetigo, recurrent skin furunculosis, subcutaneous abscesses. Other symptoms include mucous membrane infections, conjunctivitis, rhinitis, stomatitis, chronic or recurrent pneumonias, chronic cough, osteomyelitis. CGD rarely appears initially in childhood, first presentation can occur in adults.