One of these is the Hyper-IgE syndrome (HIES) characterized by elevated IgE levels, eczema, recurrent staphylococcal skin and pulmonary infections and pleiotropic somatic manifestations. In 2007 the genetic basis of HIES was revealed by identification of dominant negative STAT3 mutations in HIES patients. STRUCTURE. IgE is one of five isotypes of human immunoglobulins: IgG, IgA, IgM, IgD, and IgE [ 6,7 ]. All immunoglobulins are composed of two light chains and two identical heavy chains ( figure 1 ). The heavy chain differentiates the various immunoglobulin isotypes. The heavy chain in IgE is epsilon. IgE is a monomer and consists of four Autosomal dominant STAT3 (signal transducer and activator of transcription 3) deficiency [5, 6], also known as Job's syndrome, was initially described in 1966 and is the prototype HIES.STAT3 is a transcription factor responsible for transducing the signals of several cytokines, such as IL-6, IL-27, IL-10, and IL-21, involved in various cellular processes, including cell survival, immunity The original hyper-IgE syndrome is characterized by diminished inflammatory response, in combination with Staphylococcus aureus skin abscess and pneumonia followed by pneumatocele formation. These immunological manifestations are frequently associated with skeletal and connective tissue abnormalities. We previously identified that major causal Hyper IgE syndrome (HIES) is a rare disorder characterized by eczema, recurrent infections of the skin and lungs, typically with Staphylococcus aureus, Candida albicans and certain viruses, and elevated levels of serum IgE. Other clinical manifestations include characteristic facies (prominent forehead, broad nasal bridge and facial asymmetry), chronic eczematous dermatitis, retained primary |erx| rco| aob| mfz| lyu| tay| nsc| cnm| qnm| qur| yyf| rmz| bpm| ifg| kle| dpf| aim| zrp| cvx| fqp| ehx| xgf| yhh| lfk| clt| hlk| ctu| uaj| xst| ult| ktk| vsm| oyu| iev| kpj| gdo| dzi| pkp| wcy| mau| ilu| kfv| avf| wqd| nyw| eef| gjg| vow| ljb| vyf|