Ebrahim MANSOURI NEJAD, Seyed and Javad YAZDAN PANAH, Mohammad and TAYYEBI MEIBODI, Naser and ASHRAFZADEH*, Farah and BEIRAGHI TOOSI, Mehran and AKHONDIAN, Javad and ESLAMIEH, Hossein (2014) Griscelli Syndrome: A Case Report. Iranian Journal of Child Neurology, 8 (4). pp. 72-75.
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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.
| Item Type: | Article |
|---|---|
| Subjects: | Opene Prints > Medical Science |
| Depositing User: | Managing Editor |
| Date Deposited: | 08 Mar 2023 08:15 |
| Last Modified: | 01 Feb 2024 04:11 |
| URI: | http://geographical.go2journals.com/id/eprint/1610 |
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