Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

• Published in: Journal of clinical immunology Vol. 44; no. 4; p. 93
• Main Authors: Marakhonov, Andrey V., Efimova, Irina Yu, Mukhina, Anna A., Zinchenko, Rena A., Balinova, Natalya V., Rodina, Yulia, Pershin, Dmitry, Ryzhkova, Oxana P., Orlova, Anna A., Zabnenkova, Viktoriia V., Cherevatova, Tatiana B., Beskorovainaya, Tatiana S., Shchagina, Olga A., Polyakov, Alexander V., Markova, Zhanna G., Minzhenkova, Marina E., Shilova, Nadezhda V., Larin, Sergey S., Khadzhieva, Maryam B., Dudina, Ekaterina S., Kalinina, Ekaterina V., Mudaeva, Dzhaina A., Saydaeva, Djamila H., Matulevich, Svetlana A., Belyashova, Elena Yu, Yakubovskiy, Grigoriy I., Tebieva, Inna S., Gabisova, Yulia V., Irinina, Nataliya A., Nurgalieva, Liya R., Saifullina, Elena V., Belyaeva, Tatiana I., Romanova, Olga S., Voronin, Sergey V., Shcherbina, Anna, Kutsev, Sergey I.
• Format: Journal Article
• Language: English
• Published: New York Springer US 05.04.2024; Springer Nature B.V
• Subjects: Agammaglobulinemia; Biomedical and Life Sciences; Biomedicine; DNA; Flow cytometry; Genetic disorders; Humans; Immune system; Immunology; Infant; Infant, Newborn; Infants; Infectious Diseases; Internal Medicine; Lymphocytes B; Lymphocytes T; Lymphopenia; Lymphopenia - diagnosis; Medical Microbiology; Medical screening; Neonatal Screening - methods; Neonates; Newborn babies; Pilot Projects; Receptors, Antigen, T-Cell - genetics; Severe combined immunodeficiency; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - genetics; T cell receptors; T-Lymphocytes; Trisomy; Whole genome sequencing; agammaglobulinemia; TREC; Inborn errors of immunity; severe combined immunodeficiency; newborn screening; KREC

Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conduct...