Griscelli Syndrome: A Case Report

被引：0

作者：

Nejad, Seyed Ebrahim Mansouri ^{[1
]}

Panah, Mohammad Javad Yazdan ^{[2
,3
]}

Meibodi, Naser Tayyebi ^{[2
,4
]}

Ashrafzadeh, Farah ^{[1
]}

Akhondian, Javad ^{[1
]}

Toosi, Mehran Beiraghi ^{[1
]}

Eslamieh, Hossein ^{[1
]}

机构：

[1] Mashhad Univ Med Sci, Sch Med, Ghaem Hosp, Dept Pediat Neurol, Mashhahd, Iran

[2] Mashhad Univ Med Sci, Res Ctr Cutaneous Leishmaniasis, Mashhahd, Iran

[3] Mashhad Univ Med Sci, Dept Dermatol, Mashhahd, Iran

[4] Mashhad Univ Med Sci, Dept Pathol, Mashhahd, Iran

来源：

IRANIAN JOURNAL OF CHILD NEUROLOGY | 2014年 / 8卷 / 04期

关键词：

Griscelli syndrome; Immunodeficiency; Pigmentation disorder;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：4

共 10 条

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