title: [Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8].
abstract: In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.
authors: Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Zaragoza, Facultad de Medicina. Ciudad de México, México. jcalcantara@comunidad.unam.mx.
authors: Julio César
authors: JC
authors: Alcántara-Montiel
authors: Brittany Itzel
authors: BI
authors: Vega-Torres
mesh_terms: D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000145:classification; D007589:Job Syndrome / Q000145:classification / Q000150:complications / Q000235:genetics*; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics*
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D050796:STAT3 Transcription Factor
keywords: DOCK-8; Hyper-IgE syndrome; Primary immunodeficiency; STAT-3