Symptoms:

• Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently
• Abscess formation in the lymph nodes of the neck -- requires surgical drainage
• Frequent and difficult-to-clear skin infections
  • Chronic infection inside the nose
  • Impetigo
  • Abscesses
  • Furuncles
  • Impetiginized eczema (eczema complicated by an infection)
  • Perianal abscesses (abscesses around the anus)
• Pneumonia
  • Occurs frequently
  • Difficult to clear
• Persistent diarrhea
• Bone infections
• Joint infections

Signs and tests:

Physical examination may show an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). Signs of osteomyelitis may appear, sometimes affecting multiple bones.

A tissue biopsy may show granulomas (groups of abnormal phagocytes).

Other tests may include:

• Nitroblue tetrazolium test (NBT) to confirm the disease and detect carrier state in the mother
• Chemiluminescence assay to confirm the disease
• CBC
• ESR
• Chest X-ray
• Bone scan
• Liver scan