Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes

  title={Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes},
  author={Alexandra F Freeman and Steven M Holland},
  journal={Pediatric Research},
Autosomal dominant Hyper-IgE syndrome (AD-HIES) is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and various connective tissue, skeletal, and vascular abnormalities. Mutations in signal transducer and activator of transcription 3 (STAT3) have recently been found to account for most cases; however, the pathogenesis of the varied features remains poorly defined. A distinct syndrome, known as autosomal recessive HIES (AR-HIES… CONTINUE READING


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