Title of article :
Griscelli Syndrome: A Case Report
Author/Authors :
Mansouri Nejad, Ebrahim Department of Pediatric Neurology - Ghaem Hospital - School of Medicine - Mashhad University of Medical Sciences , Yazdan panah, Mohammad Javad Research Center for Cutaneous Leishmaniasis - Mashhad University of Medical Sciences , Tayyebi Meibodi, Naser Research Center for Cutaneous Leishmaniasis - Mashhad University of Medical Sciences , Ashraf Zadeh, Farah Department of Pediatric Neurology - Ghaem Hospital - School of Medicine - Mashhad University of Medical Sciences , Akhondian, Javad Department of Pediatric Neurology - Ghaem Hospital - School of Medicine - Mashhad University of Medical Sciences , Beiraghi Toosi' Mehran Department of Pediatric Neurology - Ghaem Hospital - School of Medicine - Mashhad University of Medical Sciences
Abstract :
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.
Keywords :
Griscelli syndrome , Immunodeficiency , Pigmentation disorder
Journal title :
Astroparticle Physics
