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Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, et al. Griscelli syndrome: a case report. Iran J Child Neurol. 2014;8(4):72-5
Mansouri Nejad, S. E., Yazdan Panah, M. J., Tayyebi Meibodi, N., Ashraf Zadeh, F., Akhondian, J., Beiraghi Toosi, M., & Eslamieh, H. (2014). Griscelli syndrome: a case report. Iranian journal of child neurology, 8(4), 72-5.
Mansouri Nejad, Seyed Ebrahim, et al. "Griscelli syndrome: a case report." Iranian journal of child neurology vol. 8,4 (2014): 72-5.
Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, Ashraf Zadeh F, Akhondian J, Beiraghi Toosi M, Eslamieh H. Griscelli syndrome: a case report. Iran J Child Neurol. 2014;8(4):72-5. PMID: 25657774; PMCID: PMC4307372.
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Iran J Child Neurol. 2014;8(4):72-5.

Griscelli syndrome: a case report.

Iranian journal of child neurology

Seyed Ebrahim Mansouri Nejad, Mohammad Javad Yazdan Panah, Naser Tayyebi Meibodi, Farah Ashraf Zadeh, Javad Akhondian, Mehran Beiraghi Toosi, Hossein Eslamieh

Affiliations

  1. Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
  2. Research Center for Cutaneous Leishmaniasis, Mashhad University of Medical Sciences, Mashhahd, Iran ; Department of Dermatology, Mashhad University of Medical Sciences, Mashhahd, Iran.
  3. Research Center for Cutaneous Leishmaniasis, Mashhad University of Medical Sciences, Mashhahd, Iran ; Department of Pathology, Mashhad University of Medical Sciences, Mashhahd, Iran.

PMID: 25657774 PMCID: PMC4307372

Abstract

OBJECTIVE: 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

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