Novorozenecký screening přináší pokrok v diagnostice závažných vrozených poruch imunity
| Title in English | The expansion of national newborn screening marks an advancement in diagnosing patients with severe inborn errors of immunity |
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| Authors | |
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Česko-slovenská pediatrie |
| MU Faculty or unit | |
| Citation | |
| web | https://cspediatrie.cz/artkey/ped-202403-0003_the-expansion-of-national-newborn-screening-marks-an-advancement-in-diagnosing-patients-with-severe-inborn-erro.php?l=cz |
| Doi | http://dx.doi.org/10.55095/CSPediatrie2024/023 |
| Keywords | screening; SCID; severe combined immunodeficiency; TREC; KREC |
| Description | Severe Combined Immunodeficiency (SCID) screening is a collective term for an early detection tool for a range of serious inborn errors of immunity. The quantification of excision DNA molecules TREC and KREC allows for early diagnosis of severe cellular and antibody immune defects. The recently concluded Czech pilot screening program (2022-2023) included over 90% of newborns (with 198,675 samples examined). Two patients with SCID were diagnosed based on CD3 epsilon deficiency and atypical complete DiGeorge syndrome, and another 17 patients were found to have other inborn errors of immunity, including 9 agammaglobulinemia. Screening enabled early causal therapy, i.e., hematopoietic cell/thymus transplantation, for two SCID patients, while early diagnosis in non-SCID patients led to the implementation of appropriate regimen and prophylactic measures to reduce subsequent morbidity. As of January 1, 2024, screening for severe inborn errors of immunity, along with screening for spinal muscular atrophy, becomes integral part of the national laboratory newborn screening program. |
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