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Literature DB >> 30326257

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.

Vassilios Lougaris¹, Manuela Baronio², Luisa Gazzurelli², Tiziana Lorenzini², Maurizio Fuoti³, Daniele Moratto⁴, Anna Bozzola⁵, Chiara Ricci⁶, Maria Pia Bondioni⁷, Alberto Ravelli³, Vincenzo Villanacci⁵, Alessandro Plebani².

Abstract

Entities: Disease Gene

Keywords: Autoimmune cytopenias; B cells; CTLA-4; Enteropathy; Hypogammaglobulinemia; T cells

Mesh：

Substances：

Year: 2018 PMID： 30326257 DOI： 10.1016/j.clim.2018.10.007

Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969

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1 in total

1. A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.

Authors: Nagaja Capitani; Anna Onnis; Francesca Finetti; Chiara Cassioli; Alessandro Plebani; Jlenia Brunetti; Arianna Troilo; Sofia D'Elios; Manuela Baronio; Luisa Gazzurelli; Chiara Della Bella; Daniel D Billadeau; Mario Milco D'Elios; Vassilios Lougaris; Cosima T Baldari
Journal: Cell Death Differ Date: 2021-07-22 Impact factor: 12.067

1 in total