RESUMO
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