Novorozenecký screening těžké kombinované imunodeficience (SCID) v České republice
| Title in English | Neonatal screening of severe combined immunodeficiency (SCID) in the Czech Republic |
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| Authors | |
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Alergie |
| MU Faculty or unit | |
| Citation | |
| Keywords | screening, SCID, severe combined immunodeficiency, TREC, KREC |
| Description | In the years 2022–2023, a pilot program was conducted in the Czech Republic to expand newborn screening to include testing for severe combined immunodeficiency (SCID) by quantifying TREC and KREC excision DNA molecules. Over 90% of newborns participated in the screening, and thus over the course of two years, 198 675 neonatal tests were performed. Two patients with SCID were diagnosed, one with CD3E deficiency and one with atypical complete DiGeorge syndrome, along with another 17 patients with various other non-SCID immuno- deficiencies. For those identified with SCID, early identification through the screening program allowed for prompt genetic diagnosis and the initiation of causal therapy with hematopoietic cell transplantation and thymus transplantation before reaching 4 months of age, thus improving their overall prognosis. For non-SCID patients, early identification enabled individualised outpatient monitoring, regimental measures, and prophylactic therapy, which minimised their subsequent morbidity. Due to its success, the SCID screening program was incorporated into the standard newborn screening in the Czech Republic from January 1, 2024. |
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