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

Lingman Framme, Jenny, 1977 (author)

Hammarström, Lennart (author)

Oskarsdóttir, Sólveig, 1953 (author): Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics

(creator_code:org_t)

2014-03-09
2014
English.
In: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 34:4, s. 514-9

Related links:: https://gup.ub.gu.se...; show more...; https://doi.org/10.1...; http://kipublication...; show less...

Abstract Subject headings

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 recombination excision circles (KREC) help identifying infants with B-lymphopenia. We aimed to evaluate the occurrence of abnormal TREC or KREC newborn screening results in 22q11DS patients and assessed the clinical relevance of abnormal screening reports.

By the author/editor: Lingman Framme, ...; Borte, Stephan; von Döbeln, Ulri ...; Hammarström, Len ...; Oskarsdóttir, Só ...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

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