[Wiskott-aldrich syndrome two new mutations: R13X [C83T] and P4121fsX446 [1281delC]]

Wiskott-Aldrich syndrome [WAS] is a life-threatening recessive immunodeficiency disease caused by mutations of the WAS protein [WASP] gene, characterized by thrombocytopenia, eczema and recurrent infections. In order to have accurate diagnosis for the patient referred to the Children Medical Center Hospital, Department of Allergy and Clinical Immunology who were clinically diagnosed as Wiskott-Aldrich patients, genetic analysis was done by polymerase chain reaction [PCR] and sequencing method. In this study, we found two new mutations [P412fsX446 and Gly70Arg] and a previously reported mutation [Arg13X] in WAS gene, responsible for Wiskott-Aldrich syndrome

[Griscelli syndrome: report of an Iranian case]

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