ABSTRACT
Severe combined immunodeficiency [SCID] is a rare and mortal disorder with X-linked and autosomal recessive inheritance. Many genes is related to the disease including ADA, RAG1, RAG2, Artemis, CD45, JAK3, IL7R which have different clinical presentation and T and B lymphocytes profile. In this study, we investigated gene mutations in suspected patients referred to the Children Medical Center Hospital, Department of Allergy and Clinical Immunology. Blood tests for patients showed T-B-profile, so we selected the genes that were responsible in T and B cell maturation [ADA, RAG1 and RAG2]. According to our possibilities, we studied ADA and RAG1 genes in patients. We did the test by PCR and Sequencing method. Also total ADA activity [tADA] and its isoenzymes [ADA1 and ADA2] were estimated in patients. Our investigation showed two mutations in ADA gene and three in RAG1 gene. In this study, we offer a new protocol for investigation of RAG1 gene. This is the first study on diagnosis of SCID patients through genetic investigation in Iranian patients
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