X-连锁淋巴组织增殖综合征的临床表型和诊断

The phenotype and diagnosis of X-linked lymphoproliferative syndrome

X-连锁淋巴组织增殖综合征（XLP）是一种少见的、常常是致死性的原发性免疫缺陷病，可由EB病毒感染诱发，表现为爆发性传染性单核细胞增多症、丙种球蛋白异常血症和淋巴增殖性疾病以及淋巴瘤。本病主要由编码淋巴信号活化分子相关蛋白（SAP）、X-连锁凋亡抑制因子（XIAP）和IL-2诱导的T细胞激酶（ITK）基因的突变引起。基因序列分析是确诊XLP的依据；SAP、XIAP、ITK蛋白的表达也可以作为筛查XLP的手段。家族史是需要考虑的主要客观指标，其他诊断标准包括患儿的临床表现、EB病毒感染后的EBNA抗体检测等。

X-linked lymphoproliferative disease（XLP） is a rare,often fatal primary immunodeficien- cy disease. It can be induced by EBV infection. XLP usually manifests as fulminant infectious mononucleosis, dysgammaglobulinemia, lymphoproliferative disorders and lymphoma. XLP is mainly caused by the gene mu tation,which encoded SAP,XIAP and ITK. Gene sequence analysis is the basis for diagnosis. SAP,XIAP and ITK protein detection can be used as a means of screening for XLP. Clinical manifestations, EBNA antibodies detection after EBV infection are helpful to XLP diagnosis.