hyper-IgE syndromes
The hyper-immunoglobulin E (IgE) syndromes (HIES) are primary immunodeficiencies characterized by the clinical triad of recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml.
Most cases are sporadic; however, multiplex families displaying autosomal dominant (AD) and autosomal recessive (AR) inheritance have been described.
In most sporadic and AD cases, the HIES clinical triad is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems.
In contrast, those with AR-HIES have severe molluscum contagiosum and other viral infections and may develop severe neurological complications.
Unlike patients with sporadic HIES and AD-HIES, those with AR-HIES lack skeletal or dental involvement and do not develop lung cysts.
References
Grimbacher B, Holland SM, Puck JM. Hyper-IgE syndromes. Immunol Rev. 2005 Feb;203:244-50. PMID: 15661034