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

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Year: 2021
Type: article
Study design: Case Report
Source: Clinical Genetics
DOI: 10.1111/cge.13942
Authors: Isis Atallah, Mathieu Quinodoz, Belinda Campos‐Xavier, Virginie G. Peter, Athina Fouriki, Christophe Bonvin, Armand Bottani, Camille Kumps, Federica Angelini, Felicitas Bellutti Enders, Stéphanie Christen‐Zaech, Mattia Rizzi, Raffaele Renella, Maja Beck‐Popovic, Claudia Poloni, Valérie Frossard, Jean‐Louis Blouin, Carlo Rivolta, Orbicia Riccio, Fabio Candotti, Michael Hofer, Sheila Unger, Andrea Superti‐Furga
Institutions: Centre Hospitalier Universitaire Vaudois, University of Lausanne, University of Leicester, University of Basel, Institute of Molecular and Clinical Ophthalmology Basel, University Hospital of Geneva, Hôpital de Sion
Language: English

Topic: Immunodeficiency and Autoimmune Disorders
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Award: Non-Mendelian inheritance in retinal degenerations
OpenAlex ID: W3130976079
FWCI: 0.652
Cites: 21
Cited by: 8
Related to: 10
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