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In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occurrence of T-cell lymphopenia in neonates with or without 22q11.2 deletion syndrome (del) suffering from heart defects. This retrospective cohort study included 125 patients with heart defects. T-cell receptor excision circles (TRECs), a measure for T-cell lymphopenia, were quantified by RT-PCR using stored newborn screening blood spots. Three patient groups were compared: non-conotruncal defects (<jats:italic>n<\/jats:italic>\u2009=\u200957), conotruncal defects (<jats:italic>n<\/jats:italic>\u2009=\u200942), and 22q11.2 del with conotruncal defects (<jats:italic>n<\/jats:italic>\u2009=\u200926). Significantly lower TREC values were detected in patients with 22q11.2 del and conotruncal heart defects compared to those with non-syndromic conotruncal (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) and non-conotruncal (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) defects. In contrast, no significant difference was found between patients with non-syndromic conotruncal and non-conotruncal heart defects (<jats:italic>p<\/jats:italic>\u2009=\u20090.152). Low TREC levels were obtained in neonates treated with heart surgery\/intervention within 2\u00a0weeks after birth and in those with a fatal outcome (<jats:italic>p<\/jats:italic>\u2009=\u20090.02) independent of patient group. A correlation was found between low TREC numbers and oxygen saturation, SpO<jats:sub>2<\/jats:sub> below 95% (<jats:italic>p<\/jats:italic>\u2009=\u20090.017). The SpO<jats:sub>2<\/jats:sub> was significantly lower in the non-syndromic conotruncal group compared to non-conotruncal (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) and 22q11.2 del group (<jats:italic>p<\/jats:italic>\u2009=\u20090.015). No correlation was found between low neonatal TRECs and infections needing hospitalization later in life (<jats:italic>p<\/jats:italic>\u2009=\u20090.135). Patients with 22q11.2 del and conotruncal defects have significantly lower TREC levels compared to patients with heart defects without this syndrome.<\/jats:p>","DOI":"10.1007\/s00246-020-02317-y","type":"journal-article","created":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T03:02:40Z","timestamp":1584068560000},"page":"809-815","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["T-cell Receptor Excision Circles in Newborns with Heart Defects"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5395-7688","authenticated-orcid":false,"given":"Kiran A.","family":"Gul","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janne","family":"Strand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf D.","family":"Pettersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Brun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tore G.","family":"Abrahamsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,13]]},"reference":[{"issue":"7","key":"2317_CR1","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1001\/jama.2014.9132","volume":"312","author":"A Kwan","year":"2014","unstructured":"Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR (2014) Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. 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