Clinical features and gene mutation analysis of 4 Chinese children with X-linked lymphoproliferative disease

Abstract

Objective To summarize clinical, gene mutation and their families of 4 Chinese children with X-linked lymphoproliferative (XLP) disease. Methods The clinical records and 6 genes of immunodeficiency associated with Epstein-Barr(EBV) infection were summarized and the literatures were reviewed. Results The four cases were all boys younger than 3 years old, who had onset with fever. They were all treated with ganciclovir, plasma, intravenous immunoglobulin and methylprednisolone after hospitalization, but 3 cases had the features of fulminant or fatal infectious mononucleosis(FIM), whose progression of disease was getting worse and died of second hemophagocytic lymphohistiocytosis (HLH) in the end. The survival time after onset was about 20 days. One boy had the complications of HLH associated with EBV infection and drug-induced hypersensitivity syndrome, who was improved and discharged from hospital. Two cases had adverse family history in which brothers or cousins died at younger ages. EBV-CAIgM and EBV-DNA of the 4 cases were all positive, with the copy of EBV DNA >108 copies/L. The results of the 6 genes of immunodeficiency associated with EBV infection of the 4 boys showed SH2D1A mutation. Mothers of 3 cases separately had the same SH2D1A mutation as her boy, while 1 mother refused to have the genes detected. Conclusions Patients who had the XLP were all male. Infants and young children under 5 years old usually had the features of FIM, with the complication of EBV associated HLH. Patients with XLP showed SH2D1A mutation. For male patients with FIM, especially those under 5 years, it is important to perform genetic detection early and to receive therapy as early as possible. Key words: X-linked lymphoproliferative; SH2D1A mutation; Fulminant or fetal infectious mononucleosis; Haemophagocytic lymphohistiocytosis