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Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a variant and severe persistent T cell lymphopenia.
Front Immunol
October 2024
Division of Immunology, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United States.
Article Synopsis
- Pathogenic variants in a specific transcription factor are linked to syndromes like EEC and AEC, and this case report presents an infant with severe T cell lymphopenia, detected during newborn screening.
- Flow cytometry revealed low levels of CD4+ and almost no CD8+ T cells, while the B and NK cell levels were normal; further genetic analysis identified a particular variant in the transcription factor.
- Using an artificial thymic organoid system, researchers found that T cell differentiation occurred, implying a thymic defect, leading to the patient receiving an allogenic cultured thymus tissue implant, which showed promising signs of T cell development after 9 months.
A de novo case of ankyloblepharon, ectodermal defects, cleft lip/palate syndrome with TP63 mutation diagnosed prenatally.
Indian J Dermatol Venereol Leprol
August 2024
Department of Dermatology, Venereology, Leprosy, Osmania Medical College, Afzalgunj, Hyderabad, India.
Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.
Genes (Basel)
June 2023
Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis.
View Article and Find Full Text PDFOverlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.
Eur J Med Genet
May 2023
Department of Paediatrics and Adolescent Medicine, Turku University Hospital and University of Turku, Turku, Finland.
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both the clinical presentation and location of the pathogenic variant on the TP63 gene. This division is complicated by significant overlap between syndromes.
View Article and Find Full Text PDFWe present the case of a 41-year-old man with Rapp-Hodgkin syndrome who underwent nasal septum deviation surgery under general anaesthesia. This syndrome is rare, with approximately 70 cases reported worldwide. It is one of a group of ectodermal dysplasia syndromes and results from the aberrant development of ectoderm during fetal development.
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