Griscelli Syndrome: A Case Report

Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been describ...

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Detalles Bibliográficos
Autores principales: MANSOURI NEJAD, Seyed Ebrahim, YAZDAN PANAH, Mohammad Javad, TAYYEBI MEIBODI, Naser, ASHRAF ZADEH, Farah, AKHONDIAN, Javad, BEIRAGHI TOOSI, Mehran, ESLAMIEH, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307372/
https://www.ncbi.nlm.nih.gov/pubmed/25657774
Descripción
Sumario:Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

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