【摘要】 目的探讨不典型严重联合免疫缺陷病(SCID)的诊断和治疗。方法回顾分析2012年9月-2017年6月证实为IL2RG、JAK3和RAG1突变的7例不典型SCID患儿的临床资料。结果 7例患儿中,婴儿5例,幼儿及学龄期儿童各1例;6例为男性、1例为女性。例2、4、6为经典SCID临床表型,例1、3、5、7为不典型SCID临床表型,例6临床诊断Omenn综合征。例2、5为经典SCID免疫表型,例1、3、4、6、7为不典型SCID免疫表型,例1有母体嵌合。二代测序提示,例1为复合杂合JAK3突变c.3097-1G>A/c.946-950GCGGA>ACins GGT;例2、3、4为IL2RG突变,分别为c.865C>T/p.R289X、c.664 C>T/R 222 C、52 del G;例5为杂合JAK 3突变c.2150 A>G/p.E 717 G、c.1915-2 A>G。Sanger测序提示,例6为复合杂合的RAG1突变c.994C>T/p.R332X、c.1439G>A/p.S480N;例7为纯合的RAG1突变c.2095C>T/p.R699W。结论 SCID基因突变在一定情况下可导致不典型的临床和/或免疫表现。更多还原

【Abstract】 Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease(SCID). Methods The clinical data of atypical SCID in 7 children with IL 2 RG, JAK 3, and RAG 1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases( 6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK 3 mutation with c. 3097-1 G>A/c. 946-950 GCGGA>ACins GGT. Cases 2, 3, and 4 had IL 2 RG mutations, with c. 865 C>T/p.R289 X, c.664 C>T/R222 C, 52 del G, respectively. Case 5 had JAK3 mutations with c.2150 A>G/p.E717 G and c.1915-2 A>G. Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994 C>T/p.R332 X and c.1439 G>A/p.S480 N. Case 7 had homozygous RAG1 mutation with c.2095 C>T/p.R699 W. Conclusion Under certain conditions, gene mutation can lead to atypical clinical and/or immune phenotypic SCID.更多还原