Pediatr. praxi. 2024;25(5):315-316 | DOI: 10.36290/ped.2024.060

Newborn screening of sborn errors of immunity - SCID screening

MUDr. Markéta Bloomfield, Ph.D., MUDr. Adam Klocperk, Ph.D., prof. MUDr. Anna Šedivá, DSc.
Ústav imunologie 2. LF a FN Motol, Praha

In the Czech Republic, a pilot programme for newborn screening of severe iborn errors of immunity, collectively known as SCID screening, took place in 2022-2023. The pilot data demonstrated a high efficiency of the entire methodological and clinical apparatus.

Keywords: SCID, screening, agamaglobulinemie, TREC, KREC.SCID screening, agammaglobulinemia, TREC, KREC.

Accepted: October 21, 2024; Published: November 15, 2024  Show citation

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Bloomfield M, Klocperk A, Šedivá A. Newborn screening of sborn errors of immunity - SCID screening. Pediatr. praxi. 2024;25(5):315-316. doi: 10.36290/ped.2024.060.
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    References

    1. Bloomfield M, et al. Novorozenecký screening přináší pokrok v diagnostice závažných vrozených poruch imunity. Čes-slov Pediat. 2024;79(3):136-141. Go to original source...
    2. Klocperk A, et al. Novorozenecký screening těžké kombinované imunodeficience (SCID) v České republice. Alergie. 2024;2:85-89.
    3. Ipopi - PID Life Index n.d. https://pidlifeindex.ipopi.org/#/en/principles/world-map (accessed July 21, 2024).
    4. Thakar MS, et al. Measuring the effect of newborn scre­ening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet. 2023;402:129-140. Go to original source... Go to PubMed...
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    6. Kwan A, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729-738. Go to original source... Go to PubMed...
    7. Pai S-Y, et al. Transplantation Outcomes for Severe Combined Immunodeficiency, 2000-2009 2014. https://doi.org/10.1056/NEJMoa1401177. Go to original source... Go to PubMed...

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