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

Julio César Alcántara-Montiel, Brittany Itzel Vega-Torres

Resumen


En la Clasificación de las Inmunodeficiencias Primarias, el síndrome hiper-IgE, identificado con el código OMIM #147060 en el Catálogo Online Mendelian Inheritance in Man, pertenece al grupo de las inmunodeficiencias combinadas asociadas a síndromes. Se caracteriza por elevación de la concentración de IgE, eosinofilia, abscesos recurrentes en piel, neumonías, lesiones en parénquima pulmonar, infecciones recurrentes, erupciones en el recién nacido, eccema, sinusitis, otitis y candidiasis mucocutáneas. El síndrome hiper-IgE puede ser transmitido hereditariamente en forma autosómica dominante o autosómica recesiva. El síndrome hiper-IgE en su forma dominante incluye manifestaciones no inmunológicas como facies característica, dentición patológica, escoliosis, alteraciones óseas e hiperextensibilidad articular. La causa identificada en la forma dominante es la pérdida de la función del transductor de señales y activador de la transcripción 3 (STAT-3, MIM #102582). Las mutaciones en la proteína dedicada a las citocinesis 8 (DOCK-8) 


Palabras clave


Inmunodeficiencia primaria; DOCK-8; Síndrome hiper-IgE; STAT-3

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Referencias


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DOI: http://dx.doi.org/10.29262/ram.v63i4.217

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