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Article

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Journal of clinical immunology - 1 May 2014

Lingman Framme Jenny, Borte Stephan, von Döbeln Ulrika, Hammarström Lennart, Oskarsdóttir Sólveig

Abstract excerpt

PURPOSE: Population-based newborn screening using T-cell receptor excision circles (TREC) identifies infants with severe T-lymphopenia, seen in severe combined immunodeficiencies (SCID), but also infants with the 22q11 deletion syndrome (22q11DS). Methods for analysis of kappa-deleting recombinat...

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Source

Identifiers

PMID: 24610337
DOI: 10.1007/s10875-014-0002-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24610337-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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