Clinical And Immunological Characeristics Of Rag1 Mutationsin 4 Immunodeficiency Patients

Objective: To investigate the clinical and immunological features of 4patients with immunodeficiency caused by mutations in recombination activating gene 1(RAG1).Methods: From March 2018 to May 2018,a total of 4 patients with RAG1 gene mutation were enrolled in the present study.Clinical data were reviewed and analyzed,and the peripheral blood of patients were systemically evaluated for immunological and genetic characteristics.Results: P2 and P4 had a family history(the older sister of P2 died of SCID at the age of 4 months,and the older brother and sister died more early).All of 4 patients suffered from recurrent infections,and died early.Three of them received BCG vaccination and got BCG complications.P4 patient displayed a classical SCID,P1 for Omenn syndrome,P2 for Omenn syndrome,and P3 exhibited an leaky SCID.In addition,the levels of TRECs were decreased in P1,P2 and P3 patients compared with age-matched health control.The majority of TCR-V β subfamilies in P1 and P2 patients show monoclonal or even oligoclonal peaks.All of the patients carried mutations in RAG1 gene that were confirmed by Sanger sequencing.Only one was homozygous,the others were compound heterozygous mutation.A total of 7 different mutations were identified,ofwhich three(c.2190 del T,c.310C>T,c.2516A>C)were novel type.Conclusions: RAG1 mutations can cause diverse clinical features and immune phenotypes.When someone has erythroderma,lymphocytoponia,autoimmune phenomena or/and severe infection shoulde be suspected of SCID.The patients suspected of immunodeficiency should be carried out the immunological evaluation and gene detection as early as possible.