严重联合免疫缺陷:从发现到透视。

Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
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引用次数: 3

摘要

严重联合免疫缺陷(SCID)是淋巴细胞发育和功能受损。受影响的儿童极易受到感染,如果没有治疗,在生命的第一年就会致命。估计发病率约为每5万例活产中有一例。第一批疾病出现在20世纪50年代,所有患者都在婴儿期死亡。1968年进行了首例SCID移植手术,此后有报道称SCID患者可以通过造血干细胞移植(HSCT)进行治疗。腺苷脱氨酶和共同γ链分别于1972年和1993年被确定为SCID的致病基因。SCID是由多种遗传缺陷引起的。无感染的健康SCID患儿早期干预生存率较高,建议进行新生儿筛查(NBS)。t细胞受体(TCR)切除环(TRECs)是由TCR重排产生的剩余片段形成的环状DNA。trec可以通过定量PCR从一小部分DNA(如Guthrie卡)中测量。SCID患者缺乏trec,而trec的量化对SCID的NBS是有用的。美国大部分地区已经开展了SCID的国家统计局,日本希望尽早引入SCID以拯救SCID儿童。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Severe combined immunodeficiency: From its discovery to the perspective.

Severe combined immunodeficiency (SCID) is impaired in lymphocyte development and function. Affected children have extreme susceptibility to infections, which are fatal in the first year of life without treatment. The estimate of incidence is one in approximately 50,000 live birth. The first series of diseases were described in 1950s, and all patients died in infancy. The first transplant for SCID was carried out in 1968, and it has been described that SCID patients could be treated by hematopoietic stem cell transplantation (HSCT) since then. Adenosine deaminase and common gamma chain were identified to be causative genes for SCID in 1972 and 1993, respectively. SCID arises from a variety of genetic defects. The early intervention of healthy SCID infants without infections affords higher survival rate, and newborn screening (NBS) was suggested. T-cell receptor (TCR) exicision circles (TRECs) are circular DNA formed from the leftover fragment generated from the TCR rearrangement. TRECs can be measured from a small aliquot of DNA such as Guthrie card by quantitative PCR. SCID patients lack TRECs, and TRECs quantification is useful for NBS for SCID. NBS for SCID have been already carried out in most of the Unite States, and the early introduction is desired in Japan to save SCID children.

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