Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalya V Balinova, Yulia Rodina, Dmitry Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
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 conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period...
April 5, 2024: Journal of Clinical Immunology