Causes of low neonatal T-cell receptor excision circles: A systematic review

Mauracher, Andrea A.; Pagliarulo, Fabio; Faes, Livia; Vavassori, Stefano; Güngör, Tayfun; Schmid, Jana Pachlopnik

doi:10.1016/j.jaip.2017.02.009

Cited by 35 publications

(17 citation statements)

References 75 publications

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“…3,9 In a systematic review that included screening data from 42 articles and over 6 million infants, 22q11.2 deletion syndrome was the most frequently recorded primary immunodeficiency in infants with confirmed low TRECs. 10 This case highlights the importance of considering a broad differential when encounter an abnormal NBS screen as opposed to anchoring on the single condition for which the screen had been developed.…”

Section: Discussionmentioning

confidence: 97%

A Jittery Newborn With an Abnormal Newborn Screen

Cooper

Szumlas

Lombardo

et al. 2019

Clin Pediatr (Phila)

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Section: Discussionmentioning

confidence: 97%

A Jittery Newborn With an Abnormal Newborn Screen

Cooper

Szumlas

Lombardo

et al. 2019

Clin Pediatr (Phila)

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“…The mean ages at symptom onset and at diagnosis were 2·4 ± 1·6 and 6·71 ± 3·5 months, respectively, and the mean diagnostic delay was 4·31. The lag of diagnosis for several months might be due to (i) non‐specific clinical presentations, (ii) the attribution of initial laboratory findings to malnutrition and/or common infections; or (iii) poor access to specialized diagnostic services (notably neonatal T cell receptor excision circle screening programs for SCIDs identification is not applied) [17].…”

Section: Discussionmentioning

confidence: 99%

Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

Hawary

Meshaal

Mauracher

et al. 2020

Clinical and Experimental Immunology

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The clinical manifestations in the T‐B+SCID patients includes failure to thrive, oral ‎candidiasis, diarrhea, pneumonia, napkin dermatitis, skin rash, otitis media and ‎meningitis. ‎ Genetic analysis of T‐B+ Egyptian SCID patients revealed variants in JAK3 gene in ‎‎60% of the patients, IL2RG in 30%, IL7RA in 5% and CD3E in 5%. ‎JAK3 gene should be sequenced in all T‐B+ patients especially if X SCID is ruled out ‎in male patients by analyzing the family’s pedigree, medical history and Sanger ‎sequencing.‎

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“…Pilot screening was initiated in 2008 [ 3 ] and by the end of 2018, all 50 states within the US and several other countries had adopted the use of the T cell receptor excision circle (TREC) biomarker for the newborn screen for SCID (NBS SCID) [ 4 , 5 , 6 , 7 , 8 ]. Although SCID is the primary target of newborn screening, widespread implementation revealed that other conditions with TCL are also identified, including some syndromic disorders with early-onset TCL such as 22q11 deletion syndrome, secondary causes of TCL, and prematurity [ 9 , 10 , 11 , 12 , 13 , 14 , 15 ]. In addition, while TREC quantification has proved to be an effective biomarker for most cases of SCID, there is concern that some defects have a higher potential to be missed, in particular those due to ADA deficiency for which mass spectrometry has been used [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices

Knight

Heimall

Wright

et al. 2020

IJNS

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Severe combined immunodeficiency (SCID) includes a group of monogenic disorders presenting with severe T cell lymphopenia (TCL) and high mortality, if untreated. The newborn screen (NBS) for SCID, included in the recommended universal screening panel (RUSP), has been widely adopted across the US and in many other countries. However, there is a lack of consensus regarding follow-up testing to confirm an abnormal result. The Clinical Immunology Society (CIS) membership was surveyed for confirmatory testing practices for an abnormal NBS SCID result, which included consideration of gestational age and birth weight, as well as flow cytometry panels. Considerable variability was observed in follow-up practices for an abnormal NBS SCID with 49% confirming by flow cytometry, 39% repeating TREC analysis, and the remainder either taking prematurity into consideration for subsequent testing or proceeding directly to genetic analysis. More than 50% of respondents did not take prematurity into consideration when determining follow-up. Confirmation of abnormal NBS SCID in premature infants continues to be challenging and is handled variably across centers, with some choosing to repeat NBS SCID testing until normal or until the infant reaches an adjusted gestational age of 37 weeks. A substantial proportion of respondents included naïve and memory T cell analysis with T, B, and NK lymphocyte subset quantitation in the initial confirmatory panel. These results have the potential to influence the diagnosis and management of an infant with TCL as illustrated by the clinical cases presented herein. Our data indicate that there is clearly a strong need for harmonization of follow-up testing for an abnormal NBS SCID result.

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Causes of low neonatal T-cell receptor excision circles: A systematic review

Cited by 35 publications

References 75 publications

A Jittery Newborn With an Abnormal Newborn Screen

A Jittery Newborn With an Abnormal Newborn Screen

Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices

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