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

Abstract

Este artículo debe citarse como: Alcántara-Montiel JC, Vega-Torres BI. Síndrome hiper-IgE. Lecciones de la función y defectos de STAT-3 o DOCK-8. Rev Alerg Mex. 2016;63(4):385-396 AbstractIn 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.

Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome

“…Some patients have impaired humoral immunity, decreasing the number of immunoglobulins. DIDS patients are also highly prone to malignancy, with 10% to 36% of patients developing cancers in late childhood to early adulthood like squamous cell carcinomas, and lymphomas, including Burkitt lymphoma or Epstein Barr Virus (EBV) diffuse large B cell lymphoma, predominate [2, 3]. Since the discovery in 2009 that loss-of-function mutations in DOCK8 underlie AR-HIES, an estimated >100 patients worldwide have been identified.…”