A 12-year-old boy had a one-year history of a 7.0-kg weight loss, intermittent diarrhea with mucus and blood in stools, oral mucosal ulcerations, and tender cervical lymphadenopathy. He also had malaise and early fatigability but no fever or abdominal pain. There had not been a skin rash, arthralgia, or eye symptoms, and there was no family history of a similar problem.
Since early infancy he had had frequent pyogenic infections, including septicemia, pneumonia, pyodermia, osteomyelitis, and gastroenteritis. Organisms isolated were mainly gram-negative bacteria, including Escherichia coli and Klebsiella. Infections were associated with moderate neutrophilic responses.
He was afebrile, pale, and thin. His height and weight were at the tenth percentile. Cervical lymph nodes were tender and enlarged to 2 cm. Gingivitis and small oral mucosal ulcerations were present. Results of abdominal and perianal examinations were normal.
The hemoglobin level was 12.5 g/dL (125 g/L); hematocrit, 37.6% (0.376); and total white