Hyper-IgE syndrome and autoimmunity in Mexican children

Pediatr Nephrol. 2006 Aug;21(8):1200-5. doi: 10.1007/s00467-006-0178-3. Epub 2006 Jun 22.

Abstract

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Autoimmune Diseases / immunology*
  • Autoimmunity*
  • Child
  • Female
  • Humans
  • Job Syndrome / complications*
  • Job Syndrome / immunology*
  • Male
  • Mexico