{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T03:33:27Z","timestamp":1773113607921,"version":"3.50.1"},"reference-count":40,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T00:00:00Z","timestamp":1728432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["075-15-2021-1061"],"award-info":[{"award-number":["075-15-2021-1061"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["RF 193021X0029"],"award-info":[{"award-number":["RF 193021X0029"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 testing and further genetic analysis, including whole-exome sequencing (WES). A male newborn was identified with significantly reduced TREC values, indicative of T cell lymphopenia. Genetic analysis revealed a heterozygous NM_003722.5:c.1027C&gt;T variant in TP63, leading to the p.(Arg343Trp) substitution within the DNA binding domain. This mutation has been previously associated with Ectrodactyly\u2013Ectodermal Dysplasia\u2013Cleft lip\/palate syndrome (EEC) syndrome and shown to reduce the transactivation activity of TP63 in a dominant-negative manner. This case represents one of the few instances of immune system involvement in a patient with a TP63 mutation, highlighting the need for further investigation into the immunological aspects of TP63-associated disorders. Our findings suggest that comprehensive immunological evaluation should be considered for patients with TP63 mutations to better understand and manage potential immune dysfunctions.<\/jats:p>","DOI":"10.3390\/ijms251910844","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T06:30:03Z","timestamp":1728455403000},"page":"10844","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey","family":"Marakhonov","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Serebryakova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Mukhina","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia","family":"Vechkasova","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolai","family":"Prokhorov","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biochemistry, Indiana University, Bloomington, IN 47405, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4672-1447","authenticated-orcid":false,"given":"Irina","family":"Efimova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9493-6544","authenticated-orcid":false,"given":"Natalia","family":"Balinova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6399-2962","authenticated-orcid":false,"given":"Anastasia","family":"Lobenskaya","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6744-0567","authenticated-orcid":false,"given":"Tatyana","family":"Vasilyeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Zabnenkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-9093","authenticated-orcid":false,"given":"Oxana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9857-4456","authenticated-orcid":false,"given":"Yulia","family":"Rodina","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6148-7209","authenticated-orcid":false,"given":"Dmitry","family":"Pershin","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadezhda","family":"Soloveva","sequence":"additional","affiliation":[{"name":"Department of Neonatal and Infantile Pathology, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Fomenko","sequence":"additional","affiliation":[{"name":"Department of Neonatal and Infantile Pathology, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djamila","family":"Saydaeva","sequence":"additional","affiliation":[{"name":"State Budgetary Institution \u201cMaternity Hospital\u201d of the Ministry of Healthcare of the Chechen Republic, 364017 Grozny, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aset","family":"Ibisheva","sequence":"additional","affiliation":[{"name":"State Budgetary Institution \u201cMaternity Hospital\u201d of the Ministry of Healthcare of the Chechen Republic, 364017 Grozny, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taisiya","family":"Irbaieva","sequence":"additional","affiliation":[{"name":"Department of Maternity and Childhood, Ministry of Healthcare of the Chechen Republic, 364061 Grozny, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1568-3217","authenticated-orcid":false,"given":"Alexander","family":"Koroteev","sequence":"additional","affiliation":[{"name":"Saint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3586-3458","authenticated-orcid":false,"given":"Rena","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Voronin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Shcherbina","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research 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