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Variable clinical phenotypes of severe combined immunodeficiency caused by RAG1 mutations.

??Abstract?? Objective To investigate the different clinical and immune features of variable phenotypes of severe combined immunodeficiency caused by RAG 1 mutations.Methods From 2012.9 to 2013.04?? three patients were included in the study??and records of clinical details were reviewed. Results The phenotypes of three patients were typical SCID for patient 1??Omenn syndrome for patient 2 and atypical SCID complicated with recurrent autoimmune hemolytic anemia for patients 3??respectively.RAG 1 mutations were compound heterozygous allele 1??1870 C??T/Arg624Cys??allele 2??2005 G??A/Glu669Lys??allele 1 was published mutation??allele 2 was de novel mutation?? for patient 1??compound heterozygous allele 1??994 C??T/Arg332X??allele 2??1439 G??A/Ser480Asn??both mutations were de novel mutations??for patient 2??homozygous 2095 C??T/R699W for patient 3 and was published mutation. First two patients died soon after discharge.Patient 3 was treated for recurrent autoimmune hemolytic anemia in our ward.Conclusion RAG1 mutations can lead to variable SCID phenotypes.Patients with typical SCID and Omenn syndrome were with poor prognosis??which need transplantation treatment.