Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome

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 recombination...

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Veröffentlicht in:	Journal of clinical immunology 2014-05, Vol.34 (4), p.514-519
Hauptverfasser:	Lingman Framme, Jenny, Borte, Stephan, von Döbeln, Ulrika, Hammarström, Lennart, Óskarsdóttir, Sólveig
Format:	Artikel
Sprache:	eng
Schlagworte:	22q11 Deletion Syndrome - diagnosis 22q11 Deletion Syndrome - genetics 22q11 Deletion Syndrome - pathology B-Lymphocytes - immunology B-Lymphocytes - pathology Biomedical and Life Sciences Biomedicine Child Child, Preschool Female Gene Rearrangement, T-Lymphocyte Genotype Humans Immunologic Tests Immunology Infant Infant, Newborn Infectious Diseases Internal Medicine Lymphopenia - diagnosis Lymphopenia - genetics Lymphopenia - pathology Male Medical Microbiology Medicin och hälsovetenskap Neonatal Screening Original Research Pediatrics Pediatrik Phenotype Retrospective Studies Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - pathology T-Lymphocytes - immunology T-Lymphocytes - pathology
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