PID Medical Record Registration System Construction And 31 Cases Of X Chain Severe Combined Immunodeficiency Disease Case Analysis

Primary immunodeficiency diseases (PIDs) represent a formidablechallenge for both clinicians and scientists，however, there is no nationalregistry network of PIDs In China, and only several separated centerspublished the clinical data of PIDs mostly in Chinese. Hence, theprevalence and clinical features of PIDs largely remain unknown in Chinaby this far. We set up a PID registry database base on the PHP+MySQLlanguage, the database can be used for information storage, query, index,export and information backup. The registry database can provideepidemiological data, clinical and molecular features of PIDs andcontribute to improve the diagnosis and treatment of PIDs in China. Background: X-linked severe combined immunodeficiency(X-SCID)is a rare, life-threatening immune disorder, caused by mutations of the genefor the γ-chain(γc) of the interleukin-2receptor, IL2RG. We analyzed theclinical, immunologic, and genetic characteristics of children with X-SCID,attempting to improve the vigilance of this disease for clinical pediatricdoctors and to improve the diagnosis and treatment of X-SCID in China.Method: Medical records of31cases identified as XSCID atChildren’s Hospital of Chongqing Medical University between Jan2007and Mar2014were included, the clinical, genetic and immunologicfeatures were analyzed.Results: The average age at diseases onset was94.9(3-510) days, theaverage age at diagnosed of XSCID was176.7(39-755) days. XSCIDpatients mainly characterized by recurrent infections, including pneumonia,oral candidiatis, fungal infection, diarrhea, septicemia and BCG infection.23cases were diagnosed as anemia,2of them with thrombocytopenia werealso diagnosed as hemophagocytic lymphohistiocytosis.29of the31caseshad lymphopenia, B cells were present in all patients, T cells were markedly reduced in30cases, and NK cells were markedly reduced in29cases. The reduction in serum IgG, IgA or IgM were also notably, mainlymanifested one or two isotypes to decline.Conclusion: If male infants younger than2years present withrecurrent infections, diarrhea, oral candidiasis and BCG complications,with lymphocyte immunophenotype of T-B+NK-, XSCID should besuspected and mutation analysis of γc gene is necessary.