- 作者：P. Gonzá ; lez Carretero ; pgonzalez@hsjdbcn.org ; A. Noguera Julian ; S. Ricart Campos ; C. Fortuny Guasch ; L. Martorell Sampol
- 关键词：Sí ; ndrome de Griscelli-Prunieras ; Inmunodeficiencia ; Albinismo parcial
- 刊名：Anales de Pediatr铆a
- 出版年：2009
- 期刊代码：pca47_16954033
- 类别：med
- 出版时间：February 2009
- 卷：70
- 期：2
- 页码：164-167
- 文件大小：833 K
Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.