This is a rare, autosomal dominant (sporadic) immunodeficiency characterized by:
- recurrent staphylococcal skin infections (cold abscesses)
- lung infections causing pneumatocoeles, which then invite aspergillomas
- mucocutaneous candidiasis
- eczema, eosinophilia and high IgE
PLUS bony abnormalities:
- osteopenia and spontaneous bone fractures
- dysmorphism: triangular jaw, wide nose, asymmetrical face
- dental abnormalities eg retained primary
- hyperflexibility and scoliosis
Also called Job’s (because of the Bible story, smitten by boils etc, but could equally have been CGD!) or Buckley syndrome.
Caused by STAT3 defect, part of IL6 receptor. Not actually an immunoglobulin problem! Not to be confused with Hyper IgM syndrome. But if antibiotic prophylaxis is ineffective, IVIG is sometimes used.
An autosomal recessive form without the bone abnormalities but with vasculitis esp CNS involvement described.