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A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency

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Year: 2019
Type: article
Source: Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2019.01.001
Authors: Vassilios Lougaris, Janet Chou, Abdallah Beano, Jacqueline G. Wallace, Manuela Baronio, Luisa Gazzurelli, Tiziana Lorenzini, Daniele Moratto, Giovanna Tabellini, Silvia Parolini, Michael Seleman, Kelsey Stafstrom, Haiming Xu, Chad Harris, Raif S. Geha, Alessandro Plebani
Institutions: Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, University of Brescia, Boston Children's Hospital, Harvard University, Dana-Farber Cancer Institute, Harvard Stem Cell Institute, Dana-Farber/Boston Children's Cancer and Blood Disorders Center
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

Funders: Jeffrey Modell Foundation, National Institutes of Health, Seventh Framework Programme, National Institute of Allergy and Infectious Diseases, Perkin Fund
Awards: G1345534721, Mechanisms of disease in patients with I?B? mutations, Novel mechanisms of T cell costimulation: the role of LRRC8A in T cell activation, G9000031483
OpenAlex ID: W2909282987
FWCI: 3.389
Cites: 15
Cited by: 49
Related to: 10
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