[CITATION][C] Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome)
Y Kim, JA Nard, A Saad, J Casselman… - Annals of Allergy …, 2015 - annallergy.org
Hyper-IgE syndrome (HIES) was initially referred to as Job syndrome because patients
presented with cold abscesses that resembled those found in the biblical character Job.
HIES is a rare immunologic disease, with an incidence of 1 in 100,000, that affects both
males and females equally. 1 Both autosomal recessive and dominant inheritance patterns
have been described. The autosomal dominant HIES involves defects in the Janus activated
kinase-signal transducer that lead to impaired TH17. 2, 3 Mutations in STAT3 have been …
presented with cold abscesses that resembled those found in the biblical character Job.
HIES is a rare immunologic disease, with an incidence of 1 in 100,000, that affects both
males and females equally. 1 Both autosomal recessive and dominant inheritance patterns
have been described. The autosomal dominant HIES involves defects in the Janus activated
kinase-signal transducer that lead to impaired TH17. 2, 3 Mutations in STAT3 have been …