Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

被引：7

作者：

Marakhonov, Andrey V. ^{[1
]}

Efimova, Irina Yu. ^{[1
]}

Mukhina, Anna A. ^{[2
]}

Zinchenko, Rena A. ^{[1
]}

Balinova, Natalya V. ^{[1
]}

Rodina, Yulia ^{[2
]}

Pershin, Dmitry ^{[2
]}

Ryzhkova, Oxana P. ^{[1
]}

Orlova, Anna A. ^{[1
]}

Zabnenkova, Viktoriia V. ^{[1
]}

Cherevatova, Tatiana B. ^{[1
]}

Beskorovainaya, Tatiana S. ^{[1
]}

Shchagina, Olga A. ^{[1
]}

Polyakov, Alexander V. ^{[1
]}

Markova, Zhanna G. ^{[1
]}

Minzhenkova, Marina E. ^{[1
]}

Shilova, Nadezhda V. ^{[1
]}

Larin, Sergey S. ^{[2
]}

Khadzhieva, Maryam B. ^{[2
]}

Dudina, Ekaterina S. ^{[2
]}

Kalinina, Ekaterina V. ^{[2
]}

Mudaeva, Dzhaina A. ^{[3
]}

Saydaeva, Djamila H. ^{[4
]}

Matulevich, Svetlana A. ^{[5
]}

Belyashova, Elena Yu. ^{[6
]}

Yakubovskiy, Grigoriy I. ^{[7
]}

Tebieva, Inna S. ^{[8
,9
]}

Gabisova, Yulia V. ^{[9
]}

Irinina, Nataliya A. ^{[10
]}

Nurgalieva, Liya R. ^{[11
]}

Saifullina, Elena V. ^{[12
]}

Belyaeva, Tatiana I. ^{[13
]}

Romanova, Olga S. ^{[13
]}

Voronin, Sergey V. ^{[1
]}

Shcherbina, Anna ^{[2
]}

Kutsev, Sergey I. ^{[1
]}

机构：

[1] Res Ctr Med Genet, Moscow, Russia

[2] Dmitry Rogachev Natl Med Res Ctr Pediat Hematol On, Moscow, Russia

[3] Republican Perinatal Ctr, Grozny, Grozny, Russia

[4] Minist Healthcare Chechen Republ, State Budgetary Inst Matern Hosp, Grozny, Russia

[5] SV Ochapovsky Reg Clin Hosp 1, Krasnodar, Russia

[6] Orenburg Reg Clin Hosp 2, Orenburg, Russia

[7] Ryazan Reg Clin Perinatal Ctr, Ryazan, Russia

[8] North Ossetian State Med Acad, Vladikavkaz, Russia

[9] Republican Childrens Clin Hosp Republ North Osseti, Vladikavkaz, Russia

[10] State Budgetary Healthcare Inst Vladimir Reg Reg C, Vladimir, Russia

[11] Republican Ctr Med Genet, Ufa, Russia

[12] Bashkir State Med Univ, Ufa, Russia

[13] Clin Diagnost Ctr Maternal & Child Hlth, Ekaterinburg, Russia

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2024年 / 44卷 / 04期

关键词：

Inborn errors of immunity; newborn screening; TREC; KREC; severe combined immunodeficiency; agammaglobulinemia; SEVERE COMBINED IMMUNODEFICIENCY; TRANSFUSION; DISEASE; STATE; TREC;

D O I：

10.1007/s10875-024-01691-z

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period. One hundred thirty-four newborns (0.66 parts per thousand) were NBS positive after the first test and subsequent retest, 41% of whom were born preterm. After lymphocyte subsets were assessed via flow cytometry, samples of 18 infants (0.09 parts per thousand) were sent for whole exome sequencing. Confirmed genetic defects were consistent with autosomal recessive agammaglobulinemia in 1/18, severe combined immunodeficiency - in 7/18, 22q11.2DS syndrome - in 4/18, combined immunodeficiency - in 1/18 and trisomy 21 syndrome - in 1/18. Two patients in whom no genetic defect was found met criteria of (severe) combined immunodeficiency with syndromic features. Three patients appeared to have transient lymphopenia. Our findings demonstrate the value of implementing combined TREC/KREC NBS screening and inform the development of policies and guidelines for its integration into routine newborn screening programs.

引用

页数：9

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