[Griscelli syndrome: report of an Iranian case]

ABSTRACT

In this study, we report a patient who was afflicted by Griscelli syndrome [GC] type II. GS II is an autosomal recessive disorder that is associated with silver-gray sheen of the hair and immunodeficiency. Mutation in RAB27A gene is responsible for this type of GS. The aim of this study is to investigate mutations in the RAB27A gene in a 3-year-old boy who was referred to our center with immunodeficiency, silvery gray sheen of the hair, fever and accelerated phase. He was the third child of consanguine parents. The first child is a 6-year-old healthy girl and the second one was a boy who had the same clinical features as the proband, and he died when he was 13-month-old. So far the most of Iranian patients have had mutation in exon 6 of RAB27A gene and this mutation we report has been seen just in Iranian patients