XLP-1 with p.Pro101Leu mutation in SH2D1A gene secondary to hemophagocytic syndrome with central nervous system involvement:A case report and literature review
To raise awareness of X-linked lymphoproliferative disease 1(XLP-1),and expand case data of XLP-1 in China,it reviews the clinical data of one XLP-1 patient in our hospital,and reviews relevant literature to summarize the clinical characteristics,diagnosis,and treatment of this disease.This patient has a positive family history,therefore,the genetic test was conducted during the first infection,a hemizygous mutation was found in SH2D1A c.302C＞T(p.P101 L),from his mother.In the early stages,the patients only show antibiotic con-trolled infections,until 10 months after diagnosised,he showed EBV related hemophagocytic lymphohistiocytosis(HLH).Chemotherapy according to the HLH-1994 protocol resulted in remission of the condition,but due to persistent EB viremia and central nervous system involvement,hematopoietic stem cell transplantation was per-formed after salvage chemotherapy,now the child is healthy and surviving.So those boys who with a positive family history or diagnosed HLH or lymphoma or low gamma globulin should be screened for SH2D1A gene mu-tation.Once XLP-1 is diagnosed,hematopoietic stem cell transplantation should be performed as soon as possible.
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