IL2RG基因突变致X-连锁重症联合免疫缺陷病1例及家系突变分析
摘要
<正>重症联合免疫缺陷(severe combined immunodeficiency,SCID)是一种体液免疫与细胞免疫同时存在严重缺陷的疾病,通常T细胞免疫缺陷更为突出。据估计其发病率为1/50万～1/10万,95%患者为男孩,多呈X-连锁隐性遗传,偶有常染色体隐性遗传及散发病例。白介素-2受体γ链(interleukin 2receptor subunit gamma,IL2RG)基因突变引起X-连锁隐性遗传为最常见的突变类型,占全部病例的50%～60%。本文报道1例IL2RG基因突变所致的X-连锁严重联合免疫缺陷病及家系突变分析,以提高儿科医务人员对该疾病的认识。
引文
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[8] Zhang C,Zhang ZY,Wu JF,et al. Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China[J]. World J Pediatr,2013,9:42-47
[9] Kalman L,Lindegren ML,Kobrynski L,et al. Mutations in genes required for T-cell development:IL7R,CD45,IL2RG,JAK3,RAG1,RAG2,ARTEMIS,and ADA and severe combined immunodeficiency:HuGE review[J].Genet Med,2004,6(1):16-26
[2] Noguchi M,Yi H,Rosenblatt HM,et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans[J]. Cell,1993,73(1):147-157
[3] Mou W,He J,Chen X,et al. A novel deletion mutation in IL2RG gene results in X-linked severe combinedimmunodeficiency with an atypical phenotype[J]. Immunogenetics,2017,69(1):29-38
[4] Tan W,Yu S,Lei J,et al. A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency(X-SCID;T(-)NK(-)B(+))[J]. Immunogenetics,2015,67(11-12):629-639
[5] Vihinen M,Arredondo-Vega FX,Casanova JL,et al. Primary immunodeficiency mutation databases[J]. Adv Genet,2001,43:103-188
[6] Schmalstieg FC,Goldman AS. Immune consequences of mutations in the human common gamma-chain gene[J].Mol Genet Metab,2002,76(3):163-171
[7] Fugman SD,Muller S,Friedrich W,et al. Mutations in the gene for the common gamma chain(gammae)in X-linked severe combined immunodeficiency[J]. Hum Genet,1998,103:730-731
[8] Zhang C,Zhang ZY,Wu JF,et al. Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China[J]. World J Pediatr,2013,9:42-47
[9] Kalman L,Lindegren ML,Kobrynski L,et al. Mutations in genes required for T-cell development:IL7R,CD45,IL2RG,JAK3,RAG1,RAG2,ARTEMIS,and ADA and severe combined immunodeficiency:HuGE review[J].Genet Med,2004,6(1):16-26