X-连锁淋巴组织增殖综合征的临床表型和诊断

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.

The phenotype and diagnosis of X-linked lymphoproliferative syndrome

X-linked lymphoproliferative disease(XLP)is a rare,often fatal primary immunodeficiency disease.It can be induced by EBV infection.XLP asUally manifests as fulminant infectious-mononucleosis,dysgammaglobulinemia,lymphoproliferative disorders and lymphoma.XLP is mainly caused by the gene mutation,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 ale helpful to XLP diagnosis.