Affiliations: Laboratory of Clinical Infectious Diseases, NIAID,
NIH, Bethesda, MD, USA
Note: [] Corresponding author: Alexandra Freeman, MD, NIH Building 10,
Room 11N234 Bethesda, MD 20892, USA. Tel.: +1 301 594 9045; Fax: +1 301 496
0773; E-mail: [email protected]
Abstract: Over the last 4 years, three genetic etiologies of hyper IgE
syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE
syndromes are characterized by eczema, sinopulmonary infections, and greatly
elevated serum IgE. However, each has distinct clinical manifestations.
Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is
unique in its diversity of connective tissue, skeletal, and vascular
abnormalities. DOCK8 deficiency is characterized by severe cutaneous viral
infections such as warts, and a predisposition to malignancies at a young age.
Only one individual has been identified with a hyper IgE phenotype associated
with Tyk2 deficiency, which is characterized by nontuberculous mycobacterial
infection. The identification of these genetic etiologies is leading to
advances in understanding the pathogenesis of these syndromes with the goal of
improving treatment.
DOI: 10.3233/DMA-2010-0734
Journal: Disease Markers, vol. 29, no. 3-4, pp. 123-130, 2010
