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

doi:10.1002/art.38008

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Article

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

Arthritis and rheumatism - 1 Aug 2013

Belot Alexandre, Kasher Paul R, Trotter Eleanor W, Foray Anne-Perrine, Debaud Anne-Laure, Rice Gillian I, Szynkiewicz Marcin, Zabot Marie-Therese, Rouvet Isabelle, Bhaskar Sanjeev S, Daly Sarah B, Dickerson Jonathan E, Mayer Josephine, O'Sullivan James, Juillard Laurent, Urquhart Jill E, Fawdar Shameem, Marusiak Anna A, Stephenson Natalie, Waszkowycz Bohdan, W Beresford Michael, Biesecker Leslie G, C M Black Graeme, René Céline, Eliaou Jean-François, Fabien Nicole, Ranchin Bruno, Cochat Pierre, Gaffney Patrick M, Rozenberg Flore, Lebon Pierre, Malcus Christophe, Crow Yanick J, Brognard John, Bonnefoy Nathalie

Abstract excerpt

OBJECTIVE: 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. METHODS: We studied 3 siblings with...

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PMID: 23666743
DOI: 10.1002/art.38008
PMCID: PMC4066615

Genes

PRKCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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