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首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Primary T- and B-Cell Immune Deficiencies?￠????A Prospective Study in Andaluc???-a
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Newborn Screening for Primary T- and B-Cell Immune Deficiencies?￠????A Prospective Study in Andaluc???-a

机译：新生儿筛查原发性T和B细胞免疫缺陷的研究-Andaluc的前瞻性研究

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Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (SCID), as well as X-linked agammaglobulinemia (XLA). Methods: Determination of TRECs and KRECs using a triplex RT-PCR (TRECS-KRECS-???2-actin) assay from prospectively collected DBS between February 2014 and December 2016 in three hospitals in Seville, Spain. Cut-off levels were TRECs < 6/punch, KRECs < 4/punch and b-actin > 700/punch. Internal (SCID, XLA, ataxia telangiectasia) and external controls (CDC) were included. Results: A total of 8943 DBS samples obtained from 8814 neonates were analysed. Re-punching was necessary in 124 samples (1.4%) due to insufficient ???2-actin values (<700 copies/punch). Preterm neonates (GA < 37 weeks) and neonates with a BW < 2500 g showed significantly lower TRECs and KRECs levels (p < 0.001). Due to repeated pathological results, ten neonates were re-sampled (0.11%), of which five neonates (0.055%) confirmed the pathological results: one case was a fatal chromosomopathy (TRECs 1/KRECs 4); two were extreme premature newborns (TRECs 0/KRECs 0 and TRECs 1/KRECs 20 copies/punch); and 2 neonates were born to mothers receiving azathioprine during pregnancy (TRECs 92/KRECs 1 and TRECs 154/KRECs 3 copies/punch). All controls were correctly identified. Conclusions: Severe T- and B-cell lymphopenias were correctly identified by the TRECS-KRECS-???2-actin assay. Prematurity and low BW are associated with lower TREC and KREC levels. Extreme prematurity and maternal immune suppressive therapy can cause false positive results of TRECs and KRECs values.
机译：背景：对干血斑（DBS）中的T细胞受体切除圆（TREC）和κ缺失重组切除圆（KREC）进行定量分析，可以检测出患有严重T细胞和/或B细胞淋巴细胞减少症的新生儿可能会受到严重的联合免疫缺陷症（SCID）和X连锁的丙种球蛋白血症（XLA）的影响。方法：2014年2月至2016年12月，在西班牙塞维利亚的三家医院中，使用三重RT-PCR（TRECS-KRECS-β2-actin）分析法测定TREC和KREC。临界水平是TRECs <6 / punch，KRECs <4 / punch和b-actin> 700 / punch。包括内部（SCID，XLA，共济失调毛细血管扩张）和外部对照（CDC）。结果：共分析了8814例新生儿的8943例DBS样本。由于2-肌动蛋白值不足（<700拷贝/打孔），需要对124个样品（1.4％）进行重新打孔。早产儿（GA <37周）和体重<2500 g的新生儿的TRECs和KRECs水平显着降低（p <0.001）。由于重复的病理结果，对10例新生儿进行了重新采样（0.11％），其中5例新生儿（0.055％）确认了病理结果：1例是致命性染色体病（TRECs / KRECs 4）; 2例是致命性染色体病。 2个是极端早产儿（TRECs 0 / KRECs 0和TRECs 1 / KRECs 20拷贝/打孔）; 2例新生儿是在怀孕期间接受硫唑嘌呤治疗的母亲所生（TRECs 92 / KRECs 1和TRECs 154 / KRECs 3拷贝/打孔）。正确识别了所有对照。结论：通过TRECS-KRECS-β2-肌动蛋白测定法可正确鉴定出严重的T细胞和B细胞淋巴细胞减少症。早产和低体重与较低的TREC和KREC水平有关。过度早产和母体免疫抑制疗法可导致TRECs和KRECs值的假阳性结果。

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