The disease manifests as skin infections,
pneumonias, lung abscesses, lymphadenitis, diarrhea, perianal abscesses,
hepatic, splenic, pancreatic, perinephritic, and subdiaphragmatic abscesses,
osteomyelitis, and sepsis (15% of patients). An incidence of 3.7 severe
infections requiring hospitalization per 100 patients and month has been
reported. Granulomas in the skin, gastrointestinal tract, and genitourinary
tract are characteristic and can result in esophageal, gastric outlet,
intestinal, and ureteral obstruction. The most common indications for
surgery include gastric outlet obstruction, hepatic abscesses, and enteric
fistulas. Long-term antibiotic prophylaxis with
trimethoprim-sulfamethoxazole has been successful in significantly reducing
the incidence of severe bacterial infections, but fungal infections are
increased. Itraconazole has been used successfully to reduce fungal
infections. Therapy with γ-interferon reduces infections. Long-term
complications include chronic lymphadenopathy (>80% of all patients),
underweight and short stature (31% and 23%, respectively), chronic
inflammatory processes (e.g., ulcerative stomatitis in almost 30%),
chronic diarrhea (15%), and pulmonary fibrosis (10%). Approximately
20% of the patients die at a median age of 21 years from cardiopulmonary
failure secondary to chronic or recurrent chest infections, but
approximately 50% of patients survive the fourth decade of life, with a
plateau after the third decade of life.