Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8

Translated title of the contribution: Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8

Julio César Alcántara-Montiel, Brittany Itzel Vega-Torres

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Translated title of the contributionHyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8
Original languageSpanish
Pages (from-to)385-396
Number of pages12
JournalRevista Alergia Mexico
Volume63
Issue number4
DOIs
StatePublished - Oct 1 2016
Externally publishedYes

Keywords

  • DOCK-8
  • Hyper-IgE syndrome
  • Primary immunodeficiency
  • STAT-3

ASJC Scopus subject areas

  • Immunology and Allergy

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