Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Belot, A; Kasher, P; Trotter, Eleanor W; Foray, A-P; Debaud, A-L; Rice, G; Szynkiewicz, M; Zabot, M-T; Rouvet, I; Bhaskar, S; Daly, S; Dickerson, J; Mayer, J; O'Sullivan, J; Juillard, L; Urquhart, J; Fawdar, Shameem; Marusiak, A; Stephenson, N; Waszkowycz, B; Beresford, M W; Biesecker, L; Black, G; René, C; Eliaou, J-F; Fabien, N; Ranchin, B; Cochat, P; Gaffney, P; Rozenberg, F; Lebon, P; Malcus, C; Crow, Y; Brognard, John; Bonnefoy, N

Affiliation

Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon, INSERM U1111, UMS3444/US8, Université Claude Bernard Lyon 1, and Université de Lyon, Lyon, France.

Issue Date

2013-08

Metadata

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Abstract

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of monogenic SLE have been described, providing unique insights into fundamental mechanisms of immune tolerance. The aim of this study was to identify the cause of an autosomal-recessive form of SLE.

Citation

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 2013, 65 (8):2161-71 Arthritis Rheum

Journal

Arthritis and Rheumatism

URI

http://hdl.handle.net/10541/301807

DOI

10.1002/art.38008

PubMed ID

23666743

Type

Article

Language

ISSN

1529-0131

Collections

All Paterson Institute for Cancer Research