Rare, Immune deficiency caused by a genetic mutation


  • Recurrent and often severe bacterial and fungal infection
  • Lung infections
  • Problems in facial and dental development
  • Curved spine and high risk of bone fractures
  • Outbreaks of abscesses and boils
  • Newborn rash, eczema, recurrent skin abscesses
  • Ear and sinus infection
  • Formation of cavitary lesions in the lungs (pneumatoceles)
  • Asymmetrical facial appearance
  • Prominent forehead and chin
  • Deep-set eyes, broad nose & thickened facial skin
  • Frequent pneumonia
  • Yeast infections
  • Elevated IgE
  • Repeated sinus infections
  • Abnormalities of the coronary arteries
  • Structural abnormalities of the brain,


  • High serum levels of IgE
  • Both autosomal dominant and recessive inheritance reported
  • Autosomal Dominant:
  • Mutations in the transcription factor STAT3 on chromosome 4
  • Autosomal recessive:
  • Mutations in DOCK8 & few other factors (PGM3,SPINK5, TYK2)

Risk factors:

  • Repeated infections
  • Rare condition, affecting fewer than 1 per million people
  • Life threatening conditions: Sepsis
  • Occurrence : in diverse ethnic backgrounds
  • Age: Mostly Commences in infancy

Diagnostic tests:

  • Chest X-rays or chest CTs (check for cysts in lungs)
  • Evaluation for the presence of :
  • a)skin abscesses, recurrent upper respiratory infections
  • b)Fatal infections, pneumonia,
  • Diagnostic tests to check for :
  • a)Lymphoma, eosinophilia
  • b)CBC with blood differential
  • c)Serum globulin electrophoresis -(high blood IgE level)
  • d)Clinical surveillance
  • Cultures of the infected site
  • Special blood tests to check parts of the immune system

Differential diagnostics:

  • Multiple bone fractures and scoliosis
  • Encephalitis (brain inflammation) and vascular brain lesions
  • Hyper extensibility of joints
  • Congenital skeletal anomalies and lymphoma
  • Viral skin infections (warts, molluscum, herpes)
  • Abnormal curvature of the spine (scoliosis)
  • Changes in blood vessels (aneurysms)
  • Skin cancer
  • Atopic dermatitis.
  • TYK2 deficiency
  • Netherton syndrome
  • Omenn syndrome
  • Wiskott-Aldrich syndrome (WAS)


  • Antibiotics to treat infections
  • Cream medication for skin rash
  • Pulmonary (lung) monitoring with spirometry and imaging
  • Anti-platelet or anticoagulation therapies
  • Antifungal agents ( prevent pulmonary disease)
  • Immunoglobulin replacement therapy
  • Scoliosis screening (for adolescents)
  • Surgery -to drain abscesses.


  • IVIG (antibodies to fight future infections)
  • Antibiotic trimethoprim-sulfomethoxasole (respiratory infections)
  • High-dose intravenous gamma-globulin(for severe eczema)
  • Histamine-1 antagonists to control pruritus
  • Antifungal drugs and/or, aerosolized antibiotics
  • Antiseptic treatments (skin)
  • Topical steroids

Lifestyle Management:

  • Good skin care
  • Adequate skin lubrication
  • Optimal blood pressure management
  • Genetic Counseling
  • Dental visits
  • Periodic laboratory monitoring