The expansion of national newborn screening marks an advancement in diagnosing patients with severe inborn errors of immunity

Czech version

Authors: Bloomfield Markéta ¹; $; Klocperk Adam ¹; Schneiderová Helena ²; Hlaváčková Eva ³; Turnovec Marek ⁴; Tichý Lukáš ⁵; Čech Zbyněk ⁵; Chrastina Petr ⁶; Dvořáková Lenka ⁶; Pešková Karolína ⁶; Formánková Renata ⁷; Vlková Marcela ³; Bejdák Petr ³; Kalina Tomáš ⁷; Froňková Eva ⁷; Bíly Viktor ^3,8; Říčná Dita ⁸; Grombiříková Hana ^3,8; Zachová Radana ¹; Obermannová Barbora ⁹; Sedláček Petr ⁷; Litzman Jiří ³; Freiberger Tomáš ^3,8; Šedivá Anna ¹
Authors‘ workplace: Ústav imunologie, 2. lékařská fakulta, Univerzita Karlova a FN Motol, Praha ¹; Pediatrická klinika, Lékařská fakulta, Masarykova univerzita a FN Brno ²; Ústav klinické imunologie, a alergologie, Lékařská fakulta, Masarykova univerzita, a FN u sv. Anny v Brně ³; Ústav biologie a lékařské, genetiky, 2. lékařská fakulta, Univerzita Karlova a FN Motol, Praha ⁴; Centrum molekulární biologie, a genetiky, Interní hematologická, a onkologická klinika, Lékařská fakulta, Masarykova univerzita a FN Brno ⁵; Klinika pediatrie a dědičných, poruch metabolismu, 1. lékařská, fakulta, Univerzita Karlova, a Všeobecná fakultní nemocnice, v Praze ⁶; Klinika dětské hematologie, a onkologie, 2. lékařská, fakulta, Univerzita Karlova, a FN Motol, Praha ⁷; Centrum kardiovaskulární, a transplantační chirurgie Brno ⁸; Pediatrická klinika, 2. lékařská, fakulta, Univerzita Karlova, a FN Motol, Praha ⁹
Published in: Čes-slov Pediat 2024; 79 (3): 136-141.
Category: Prevention in pediatrics
doi: https://doi.org/10.55095/CSPediatrie2024/023

Overview

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.

Keywords:

screening – SCID – severe combined immunodeficiency – TREC – KREC

Sources

Korespondenční adresa:

Markéta Bloomfield, M.D., Ph.D.
Ústav imunologie 2. LF UK a FN Motol
V Úvalu 84
150 06 Praha
marketa.bloomfield@fnmotol.cz

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