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- Borte, StephanKarolinska Institutet (author)
Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.
- Article/chapterEnglish2014
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- Elsevier BV,2014
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- LIBRIS-ID:oai:gup.ub.gu.se/204685
- https://gup.ub.gu.se/publication/204685URI
- https://doi.org/10.1016/j.clim.2014.09.003DOI
- http://kipublications.ki.se/Default.aspx?queryparsed=id:129953297URI
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- Language:English
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Notes
- The lack or marked reduction of recently formed T and B cells provides a basis for neonatal screening for severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth. We retrospectively analyzed Guthrie card samples from 11 children with Wiskott-Aldrich syndrome (WAS), a rare disease that requires early diagnosis and treatment, to determine whether combined T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) screening could identify these patients. 4 of 11 patients showed markedly reduced TREC or KREC copy numbers in their DBS as compared to storage-time matched controls and prospectively screened Swedish and German newborns. No correlation was observed between the WAS gene mutations, the clinical severity/course and the result of the screening assay. A diagnosis of WAS should thus be considered in newborns with positive TREC or KREC screening results.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Pediatrik hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Pediatrics hsv//eng
- Wiskott–Aldrich syndrome
- T cell receptor excision circles
- Kappa-deleting recombination excision circles
- Newborn screening
- Severe combined immunodeficiency
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- Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xfasan (author)
- von Döbeln, UlrikaKarolinska Institutet (author)
- Winiarski, JacekKarolinska Institutet (author)
- Hammarström, LennartKarolinska Institutet (author)
- Karolinska InstitutetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)
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- In:Clinical immunology (Orlando, Fla.): Elsevier BV155:1, s. 74-781521-70351521-6616
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