title: Griscelli syndrome: a case report.
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.
authors: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Seyed Ebrahim
authors: SE
authors: Mansouri Nejad
authors: Research Center for Cutaneous Leishmaniasis, Mashhad University of Medical Sciences, Mashhahd, Iran ; Department of Dermatology, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Mohammad Javad
authors: MJ
authors: Yazdan Panah
authors: Research Center for Cutaneous Leishmaniasis, Mashhad University of Medical Sciences, Mashhahd, Iran ; Department of Pathology, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Naser
authors: N
authors: Tayyebi Meibodi
authors: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Farah
authors: F
authors: Ashraf Zadeh
authors: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Javad
authors: J
authors: Akhondian
authors: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Mehran
authors: M
authors: Beiraghi Toosi
authors: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
authors: Hossein
authors: H
authors: Eslamieh
keywords: Griscelli syndrome; Immunodeficiency; Pigmentation disorder
references: Turk J Pediatr. 2011 Jan-Feb;53(1):34-42
references: 21534337
references: An Pediatr (Barc). 2009 Feb;70(2):164-7
references: 19217573
references: J Lab Physicians. 2012 Jul;4(2):129-30
references: 23436972
references: Indian Pediatr. 2004 Sep;41(9):944-7
references: 15475639
references: Int J Trichology. 2011 Jul;3(2):107-11
references: 22223973
references: J Pediatr Hematol Oncol. 2012 Oct;34(7):541-4
references: 22983416
references: Int J Trichology. 2012 Apr;4(2):83-5
references: 23180914
references: Viral Immunol. 2011 Dec;24(6):471-3
references: 22111599
references: Bone Marrow Transplant. 2001 Aug;28(4):409-12
references: 11571516
references: Dermatol Online J. 2007 May 01;13(2):17
references: 17498436