A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.

doi:10.3390/ijms251910844

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Article

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.

International journal of molecular sciences - 9 Oct 2024

Marakhonov Andrey, Serebryakova Elena, Mukhina Anna, Vechkasova Anastasia, Prokhorov Nikolai, Efimova Irina, Balinova Natalia, Lobenskaya Anastasia, Vasilyeva Tatyana, Zabnenkova Victoria, Ryzhkova Oxana, Rodina Yulia, Pershin Dmitry, Soloveva Nadezhda, Fomenko Anna, Saydaeva Djamila, Ibisheva Aset, Irbaieva Taisiya, Koroteev Alexander, Zinchenko Rena, Voronin Sergey, Shcherbina Anna, Kutsev Sergey

Abstract excerpt

The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified through this NBS program. Dried blood spots from newborns were initially screened for TREC/KREC levels, and those with values below the cut-off underwent confirmatory...

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PMID: 39409174
DOI: 10.3390/ijms251910844
PMCID: PMC11482481

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