Clinical characteristics and neonatal early combined screening practice of primary immunodeficiency disease and spinal muscular atrophy

YANG Ru-lai

doi:10.11852/zgetbjzz2022-0657

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Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (7) : 697-701. DOI: 10.11852/zgetbjzz2022-0657

Clinical characteristics and neonatal early combined screening practice of primary immunodeficiency disease and spinal muscular atrophy

YANG Ru-lai

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Abstract

Primary immunodeficiency disease (PID) and spinal muscular atrophy (SMA) are genetic birth defects caused by gene mutations that seriously affect children's health and even lead to death.Early detection,timely diagnosis and treatment are the key to better prognosis.Neonatal screening is an effective means to achieve early diagnosis and intervention.In recent years,neonatal screening in some countries and regions have included SMA,severe combined immunodeficiency disease (SCID) (the most severe disease of PID) and X-linked aglobulinemia (XLA) (the most common B-cell deficiency disease of PID).Zhejiang province is the first in China to carry out neonatal combined screening for SCID,XLA and SMA,which has greatly increased screening efficiency,advanced tertiary prevention of birth defects,significantly improved the prognosis of patients,enhanced their quality of life and reduced mortality.

Key words

primary immunodeficiency disease / severe combined immunodeficiency / X-linked agammaglobulinemia / spinal muscular atrophy / newborns / combined screening

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YANG Ru-lai. Clinical characteristics and neonatal early combined screening practice of primary immunodeficiency disease and spinal muscular atrophy[J]. Chinese Journal of Child Health Care. 2022, 30(7): 697-701 https://doi.org/10.11852/zgetbjzz2022-0657

References

[1] 孙丽雅,邢清和,贺林.中国出生缺陷遗传学研究的回顾与展望[J].遗传,2018,40(10):800-813.
[2] King JR,Hammarstrom L.Newborn screening for primary immunodeficiency diseases:History,current and future practice[J].J Clin Immunol,2018,38(1):56-66.
[3] Kumrah R,Vignesh P,Patra P,et al.Genetics of severe combined immunodeficiency[J].Genes Dis,2020,7(1):52-61.
[4] 陈同辛,金莹莹,原发性重症联合免疫缺陷病[J].实用儿科临床杂志,2010,25(9):621-623.
[5] 陈静.可治性罕见病[M].上海:上海交通大学出版社2017.179-185.
[6] 杨锡强,赵晓东.中国原发性免疫缺陷病现状和展望[J].中国实用儿科杂志,2011,26(11):801-804.
[7] El-Sayed ZA,Abramova I,Aldave JC,et al.X-linked agammaglobulinemia (XLA):Phenotype,diagnosis,and therapeutic challenges around the world[J].World Allergy Organ 2019,12(3):100018.
[8] Saffari A,Kolker S,Hoffmann GF,et al.Novel challenges in spinal muscular atrophy-How to screen and whom to treat?[J].Ann Clin Transl Neur 2019,6(1):197-205.
[9] Zhang JJ,Wang YG,Ma DY,et al.Carrier screening and prenatal diagnosis for spinal muscular atrophy in 13,069 Chinese pregnant women[J].J Mol Diagn, 2020,22(6):817-822.
[10] 北京医学会医学遗传学分会,北京罕见病诊疗与保障学会.脊髓性肌萎缩症遗传学诊断专家共识[J].中华医学杂志 2020,100(40):3130-3140.
[11] Pai SY,Logan BR,Griffith LM et al Transplantation outcomes for severe combined immunodeficiency,2000-2009[J].New Engl J Med,2014,371(5):434-446.
[12] Mercuri E,Finkel RS,Muntoni F,et al.Diagnosis and management of spinal muscular atrophy:Part 1:Recommendations for diagnosis,rehabilitation,orthopedic and nutritional care[J].Neuromuscular Disord,2018,28(2):103-115.
[13] Singh A,Jain M,Kapadia R,et al.Review of therapeutic options for spinal muscular atrophy[J].Scripta Medica,2021,52(2):151-159.
[14] Shaw G.Risdiplam Shows Strong Efficacy in infants with type 1 spinal muscular atrophy[J].Neurology Today,2021,21.
[15] Darras BT,Masson R,Mazurkiewicz-Beldzinska M,et al.Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls[J].New Engl J Med,2021,385(5):427-435.
[16] Sansone VA,De Vivo DC,Bertini E,et al,Nusinersen in infants who initiate treatment in a presymptomatic stage of Spinal Muscular Atrophy (SMA):Interim results from the phase 2 NURTURE study[J].Eur J Neurol,2019,26:83-83.
[17] Fischer A,Hacein-Bey-Abina S.Gene therapy for severe combined immunodeficiencies and beyond[J].J Exp Med,2020,217(2):e20190607.
[18] Ludolph AC,Wurster CD.Therapeutic advances in SMA[J].Curr Opin Neurol,2019,32(5):777-781.
[19] Chiarini M,Zanotti C,Serana F,et al.T-cellreceptor and k-deleting recombination excision circles in newborn screening of t-and b-cell defects:Review of the literature and future challenges[J].J Public Health Res,2013,2(1):9-16.
[20] 周文浩,赵正言.基因组测序技术应用于新生儿筛查:临床实践的机遇和挑战[J].中华儿科杂志,2021,59(7):541-544.
[21] Kwan A,Church JA,Cowan MJ,et al.Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California:Results of the first 2 years[J].J Allergy Clin Immun,2013,132(1):140-150.
[22] Nourizadeh M,Shakerian L,Borte S,et al.Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran[J].Scand J Immunol,2018,88(2):e12699.
[23] Gutierrez-Mateo C,Timonen A,Vaahtera K,at al.Development of a multiplex real-time PCR assay for the newborn screening of SCID,SMA,and XLA[J].Int J Neonat Screen,2019,5(4):412-419.
[24] Morna Dorsey,Jennifer Puck,Newborn Screeningfor severe combined immunodeficiency in the US:Current states and approach to management[J]Int J Neonatal Screen,2017,15:1-10.
[25] Fabie NAV,Pappas KB,Feldman GL.The current state of newborn screening in the United States[J].Pediatr Clin North Am,2019,66(2):369-386.
[26] Loeber JG,Platis D,Zetterstrom RH,et al.Neonatal screening in europe revisited:An ISNS perspective on the current state and developments since 2010[J].Int J Neonatal Screen,2021,7(1):15.
[27] Gongrich C,Ekwall O,Sundin M,et al.First year of TREC-Based National SCID screening in Sweden[J].Int J Neonatal Screen,2021,7(3):59.
[28] Zetterström RH,Barbaro M,Ohlsson A,at al.Newbornscreening for primary immune deficiencies with a trec/krec/actb triplex assay-a three-year pilot study in sweden[J].International Journal of Neonatal Screening,2017,3(2):11.
[29] Audrain MAP,Leger AJC,Hemont CAF,at al.Newbornscreening for severe combined immunodeficiency:Analytic and clinical performance of the t cell receptor excision circle assay in France (DEPISTREC Study)[J].J Clin Immunol,2018,38(7):778-786.
[30] Argudo-Ramirez A,Martin-Nalda A,Marin-Soria JL,at al.Firstuniversal newborn screening program for severe combined immunodeficiency in europe.two-years' experience in catalonia (Spain)[J].Front Immunol,2019,10:2406.
[31] 文旻,王晓川.原发性免疫缺陷病新生儿筛查[J].中国实用儿科杂志,2017,32(7):484-487.
[32] 张志勇,安云飞,蒋利萍,等.中国儿童原发性免疫缺陷病疾病分布、临床特征和分子特点的单中心研究[C]// 中华医学会第十七次全国儿科学术大会论文汇编(上册).2012.