Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia - PubMed (original) (raw)

• A Rare Case of _TP63_-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
  Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O, Rodina Y, Pershin D, Soloveva N, Fomenko A, Saydaeva D, Ibisheva A, Irbaieva T, Koroteev A, Zinchenko R, Voronin S, Shcherbina A, Kutsev S. Marakhonov A, et al. Int J Mol Sci. 2024 Oct 9;25(19):10844. doi: 10.3390/ijms251910844. Int J Mol Sci. 2024. PMID: 39409174 Free PMC article.
• Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
  Gall A, Bosticardo M, Ma S, Chen K, Amini K, Pala F, Delmonte OM, Wenger T, Bamshad M, Sleasman J, Blessing M, van Oers NSC, Notarangelo LD, de la Morena MT. Gall A, et al. Front Immunol. 2024 Sep 18;15:1438383. doi: 10.3389/fimmu.2024.1438383. eCollection 2024. Front Immunol. 2024. PMID: 39364398 Free PMC article.
• Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
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