Clinical features and genetic analysis of X-linked lymphoproliferative syndrome-type 2 with purulent meningoencephalitis onset
Objective To investigate the clinical data of a child with early-onset XIAP gene mutation from central nervous system infection,and summarize the clinical phenotype and gene variation characteristics of XLP-2,so as to provide evidence for the diagnosis and treatment of similar diseases.Methods Clinical data of a child with XLP-2 starting with septic meningoencephalitis admitted to the Children's Hospital Affiliated of Zhengzhou University were collected and validated by using whole-exon gene sequencing of the family line and one-generation sequencing method.Clinical and genetic analysis was carried out based on the relevant literature.Results The first witness,male,10 months and 10 days old,presented with clinical features of fever and convulsions.On the 45th day of treatment,he developed fever that was difficult to control with advanced antibiotics,accompanied by low tertiary,abnormal coagulation,abnormally elevated ferritin,decreased NK cell activity,ele-vated sCD25,and hemophagy on bone marrow smear,which led to the diagnosis of hemophagocytic lymphohistiocytosis(HLH).The results of whole-exome gene sequencing showed frameshift mutation c.921_924delAACT(p.T308fs*23)in XIAP gene of the child.Both his parents and older brother were wild type,and this site was a new mutation,which had not been reported in China.The relevant literature review showed that XIAP gene deficiency were not limited to HLH and inflammatory bowel disease(IBD),but can also manifested as infections,liver disease,fever,hypogammaglobulinemia,HLH-independent splenomegaly,skin manifestations and autoimmune diseases.Conclusion The XIAP gene defect is the genetic basis of refrac-tory meningoencephalitis and HLH in this child.XLP-2 has a wide range of clinical features,with no clear phenotype and genotype correlation.Objective criteria for diagnosis include family history,clinical manifestations,immunologic as well as molecular genetic tests,and genetic testing plays a crucial role in confirming the diagnosis.
X-linked lymphohistiocytosis syndrome type 2XLP-2XIAP geneBIRC4 geneseptic meningoencephalitis
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