We identified missense mutations and single-codon in-frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome. Eighteen discrete mutations, five of which were hot spots ...

Hyper-IgE syndrome (HIES ... particularly the role of specific mutations in the STAT6 and STAT3 genes. These studies have revealed how these genetic variations can lead to severe allergic ...

The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent bacterial infections of the skin and lung. Autosomal dominant HIES, the ...