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Síndrome de hiperinmunoglobulina E - Overview

Nombres alternativos

Síndrome de Job; Síndrome de hiper IgE

Definición:

Es una rara enfermedad hereditaria que causa problemas con la piel, los senos paranasales, los pulmones, los huesos y los dientes.

Causas:

El síndrome de hiperinmunoglobulina E también se conoce como síndrome de Job, por el personaje bíblico así llamado, cuya fe fue probada por una aflicción de úlceras y pústulas que supuraban. Las personas afectadas presentan infecciones cutáneas crónicas graves.

Los síntomas generalmente se presentan en la niñez, pero debido a que la enfermedad es tan infrecuente, a menudo pasan años antes de que se haga un diagnóstico correcto.

Las investigaciones recientes sugieren que la enfermedad con frecuencia es causada por un cambio (mutación) genético (un cambio en el gen STAT3 en el cromosoma 4). No se ha comprendido bien la forma como esta anomalía del gen causa los síntomas de la enfermedad; sin embargo, se sabe que las personas con esta patología tienen niveles de un anticuerpo llamado IgE superiores a lo normales.

  • Reviewed last on: 8/1/2011
  • John A. Daller, MD, PhD, Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Genetics Home Reference (GHR). Job Syndrome. Feb 2008. Accessed Nov. 13, 2008.

Immune Deficiency Foundation. Immune Deficiency Foundation Patient & Family Handbook. Chapter 12: Hyper IgE Syndrome. 4th ed. 2007. Accessed Nov. 13, 2008.

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