title: [Hyper-IgE recurrent infection syndrome: pathogenesis, diagnosis and therapeutic management].
abstract: Hyper-IgE recurrent infection syndrome is an uncommon primary immunodeficiency characterized by high serum levels of total IgE, eczema-like dermatitis, recurrent skin abscesses and staphylococci pneumonias, which can produce abscesses with mild inflammatory signs. It also causes dental, musculoskeletal and connective tissue abnormalities. The classical (type 1) variation is caused by autosomal-dominant mutations in signal transducer and activator of transcription 3. An incomplete form (type 2) has been described with only the immunological manifestations, but without the mesenchymal manifestations, has been described. This incomplete form is caused by recessive mutations in the tyrosine kinase 2 gene. Both kinds of mutations produce deficient formation of Th17-cells. These advances in the genetic and immunologic knowledge of hyper-IgE recurrent infection syndrome have allowed a better clinical comprehension of the clinical phenomena of the disease.
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, Madrid, España. pg vasco@yahoo.es
authors.forename: P
authors.initials: P
authors.lastname: Guisado Vasco
authors.forename: G
authors.initials: G
authors.lastname: Fraile Rodríguez
authors.forename: S
authors.initials: S
authors.lastname: Arechaga Uriarte
mesh_terms: D003937:Diagnosis, Differential; D005799:Genes, Dominant; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D007589:Job Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D009154:Mutation; D017410:Practice Guidelines as Topic; D050796:STAT3 Transcription Factor / Q000235:genetics; D053634:TYK2 Kinase / Q000235:genetics; D058504:Th17 Cells / Q000378:metabolism
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; D053634:TYK2 Kinase; C070139:TYK2 protein, human