The Wisconsin approach to newborn screening for severe combined immunodeficiency

Verbsky, James; Thakar, Monica S.; Routes, John M.

doi:10.1016/j.jaci.2011.12.004

Cited by 87 publications

(43 citation statements)

References 16 publications

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“…The outcome for those without pre-existing infection such as those diagnosed at birth is even better: in the UK series the survival for those transplanted having being diagnosed at or before birth was 91.5% compared to 61% for those transplanted having being diagnosed at a median age of 143 days and a significant number of these children died from infection before reaching transplant [5]. These data support neonatal screening programmes, which are being introduced in North America, and pick up patients with SCID in the newborn period, before infection supervenes [17]. Similar screening programmes are being considered in Europe.…”

Section: Severe Combined Immunodeficiencymentioning

confidence: 70%

Stem Cell Transplantation for Primary Immunodeficiency

Slatter¹,

Gennery²

2012

Immunodeficiency

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Section: Severe Combined Immunodeficiencymentioning

confidence: 70%

Stem Cell Transplantation for Primary Immunodeficiency

Slatter¹,

Gennery²

2012

Immunodeficiency

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“…Здоровые новорожденные имеют приблизительно 1 TREC на 10 Т клеток, что отражает высокий уровень наивных Т лимфоцитов в крови, в то время как дети более стар-шего возраста и взрослые имеют примерно 1 на 100 или 1000 Т клеток, что связано с «разбавлением» Т-клеточного пула путем митотического деления [40]. Новорожденные дети с ТКИН имеют очень низкие или неопределяемые уровни TREC [12,13,41]. Именно это позволяет выявлять заболевание на первой неделе жизни ребенка -задолго до манифестации клинических проявлений болезни.…”

Section: неонатальный скрининг в россииunclassified

Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?

Дерябина¹,

Tuzankina²,

Власова³

et al. 2017

Vopr. sovr. pediatr.

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“…Previous to NSP, severe combined immunodeficiency (SCID) has been projected to happen at an incidence of 1/50,000-100,000 births [3]. SCID happens approximately 1/50,000 births, as currently evaluated by impartial, population-based NSP [4]. The expected incidence of primary immunodeficiency diseases (PID) that would need urgent treatment varying from 2-8 individuals / 100,000 live births, rendering high burden on the efficacy and accessibility of this kind of screening tests [5].…”

Section: Introductionmentioning

confidence: 99%

Neonatal Screening Test for Severe Combined Immunodeficiency of Primary Immunodeficiency Diseases: TREC Assay and Its Limitations

Özdemir¹

2016

MOJI

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The expansion of a different inventory of T cells, with their individual T cell receptor (TCR), is crucial for identification of unknown antigens attached to self MHC molecules. To produce many exclusive TCRs, DNA gene reorganization and linear reassembly is executed in thymocytes, in order that each cell has its particular mixture of a TCR variable (V), diversity (D) and joining (J) series. The cut out DNA remains of the TCR are also bound at their ends, making various rounded DNA byproducts called as TRECs [10,11]. TRECs, circular byproducts of TCR V(D) J recombination, function as an indicator for recently produced naïve T cells. TRECs are constant, but are not multiplied during AbstractThe aim of any screening program in the newborn is the early detection of treatable genetic disorders having a high velocity of morbidity and mortality. T-cell receptor excision circle (TREC), circular byproducts of T-cell receptor V (D) J recombination, function as an indicator for recently produced naïve T cells. Wellknown genetic defects resulting in severe combined immunodeficiency (SCID) detected by the TREC assay are as following: IL-7 receptor; ADA; IL-2 receptor ɣ chain; etc. Other than SCID and leaky SCID patients, less important subjects of TREC assay contain infants with non-SCID T-cell lymphopenia. In this group, most frequent ones are syndromes such as DiGeorge, Down, Nijmegen breakage syndrome, ataxia telangiectasia, etc. Although the TREC assay can identify many types of T-cell lymphopenia, it may not be a screening test for every primary immunodeficiency disease. There is a group of combined immunodeficiencies in which lymphopenia is not a finding, but the immune dysfunction is as severe as in typical SCID patients. For instance; chronic granulomatous disease, congenital neutropenia, toll-like receptor defects, ZAP-70 and MHC class II deficiency that may be missed by this assay. Recent reports also confirm that TREC assay is not effective in identifying a subset of rare but deadly immunodeficiencies. Therefore, it is vital that any infant with unusual or serious infections be assessed by an expert clinical immunologist.

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The Wisconsin approach to newborn screening for severe combined immunodeficiency

Cited by 87 publications

References 16 publications

Stem Cell Transplantation for Primary Immunodeficiency

Stem Cell Transplantation for Primary Immunodeficiency

Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?

Neonatal Screening Test for Severe Combined Immunodeficiency of Primary Immunodeficiency Diseases: TREC Assay and Its Limitations

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