Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

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第一作者： Isis,Atallah

第一单位： Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

作者： Isis,Atallah ^[1] ; Mathieu,Quinodoz ^[2] ; Belinda,Campos-Xavier ^[1] ; Virginie G,Peter ^[2] ; Athina,Fouriki ^[3] ; Christophe,Bonvin ^[4] ; Armand,Bottani ^[5] ; Camille,Kumps ^[1] ; Federica,Angelini ^[3] ; Felicitas,Bellutti Enders ^[3] ; Stéphanie,Christen-Zaech ^[6] ; Mattia,Rizzi ^[7] ; Raffaele,Renella ^[7] ; Maja,Beck-Popovic ^[7] ; Claudia,Poloni ^[8] ; Valérie,Frossard ^[9] ; Jean-Louis,Blouin ^[5] ; Carlo,Rivolta ^[2] ; Orbicia,Riccio ^[10] ; Fabio,Candotti ^[10] ; Michael,Hofer ^[3] ; Sheila,Unger ^[1] ; Andrea,Superti-Furga ^[1]

作者单位： Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. ^[1] Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.;Department of Ophthalmology, University of Basel, Basel, Switzerland.;Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. ^[2] Pediatric Immunology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland. ^[3] Division of Neurology, Lausanne University Hospital, Lausanne, Switzerland. ^[4] Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland. ^[5] Pediatric Dermatology Unit, Lausanne University Hospital, Lausanne, Switzerland. ^[6] Pediatric Hemato-Oncology Unit, Lausanne University Hospital, Lausanne, Switzerland. ^[7] Pediatric Neurology Unit, Sion Hospital, Sion, Switzerland. ^[8] Hemato-Oncology Unit, Sion Hospital, Sion, Switzerland. ^[9] Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. ^[10]

关键词 Evans syndrome TPP2 autoimmunity combined immunodeficiency thrombocytopenia triangle disease tripeptidyl-peptidase II