Symptoms:

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

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). There may be signs of osteomyelitis, sometimes affecting multiple bones.

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

Other tests may include:

• Bone scan
• Chemiluminescence assay to confirm the disease
• Chest X-ray
• Complete Blood Count
• ESR
• Liver scan
• Nitroblue tetrazolium test (NBT) to confirm the disease and detect that the mother is a carrier