Griscelli Syndrome: A Case Report

Seyed Ebrahim MANSOURI NEJAD, Mohammad Javad YAZDAN PANAH, Naser TAYYEBI MEIBODI, Farah ASHRAFZADEH*, Mehran BEIRAGHI TOOSI, Javad AKHONDIAN, Hossein ESLAMIEH

Abstract


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How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, Beiraghi
Toosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.

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.

References

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Keywords


Griscelli syndrome; Immunodeficiency; Pigmentation disorder

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DOI: https://doi.org/10.22037/ijcn.v8i4.5743

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