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 a bone infection (osteomyelitis ), sometimes affecting multiple bones.

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

Other tests may include:

• Bone scan
• Chest x-ray
• Complete blood count (CBC)
• Flow cytometry tests
• Nitroblue tetrazolium test (NBT) to confirm the disease and detect that the mother is a carrier