Article
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
Frontiers in immunology - 1 Jan 2024
Gall Alevtina, Bosticardo Marita, Ma Stacey, Chen Karin, Amini Kayla, Pala Francesca, Delmonte Ottavia M, Wenger Tara, Bamshad Michael, Sleasman John, Blessing Matthew, van Oers Nicolai S C, Notarangelo Luigi D, de la Morena M Teresa
Abstract excerpt
Pathogenic variants in the transcription factor TP63 are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymphopenia has rarely been described in individuals with TP63 variants and the cause of the T cell defect is unclear. Here, we present a case of a female infant born with...
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