TREC/KREC levels in children with ataxia-telangiectasia
The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with
ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this …
ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this …
Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
O Boyarchuk, N Yarema, V Kravets, O Shulhai… - Frontiers in …, 2022 - frontiersin.org
Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI)
characterized by severe T-and/or B-lymphopenia. At birth, there are usually no clinical signs …
characterized by severe T-and/or B-lymphopenia. At birth, there are usually no clinical signs …
Neonatal Screening for Spinal Muscular Atrophy and Severe T-and B-Cell Lymphopenias in Andalusia: A Prospective Study
B De Felipe, C Delgado-Pecellin… - International Journal of …, 2025 - mdpi.com
Spinal muscular atrophy (SMA) and severe T-and/or B-cell lymphopenias (STBCL) in the
form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia …
form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia …
Newborn screening for severe combined immunodeficiency: lessons from a pilot study and prospects
OR Boyarchuk, NM Yarema… - CHILDS …, 2023 - childshealth.zaslavsky.com.ua
The expansion of the neonatal screening program in Ukraine from October 2022 became an
important achievement in the development of domestic medicine. Despite the severe …
important achievement in the development of domestic medicine. Despite the severe …
[PDF][PDF] Скринінг новонароджених на тяжкі імунодефіцити: уроки пілотного проєкту і перспективи
ОР Боярчук, НМ Ярема, ГВ Макух - 2023 - childshealth.zaslavsky.com.ua
Розширення програми неонатального скринінгу в Україні із жовтня 2022 року стало
вагомою подією розвитку вітчизняної медицини. Україна, незважаючи на тяжкі виклики …
вагомою подією розвитку вітчизняної медицини. Україна, незважаючи на тяжкі виклики …
[PDF][PDF] ATYPICAL, DRUG-RESISTANT COURSE OF COMBINED IMMUNODEFICIENCY: CASE REPORT
B Oksana, Y Natalia, K Maria… - …, 2021 - pharmacologyonline.silae.it
Combined immunodeficiencies (CID) are a heterogeneous group of human inborn errors of
immunity with varying severity. We present a clinical case of CID (T-B+ NK+), suspected by …
immunity with varying severity. We present a clinical case of CID (T-B+ NK+), suspected by …