Article
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
Clinical immunology (Orlando, Fla.) - 1 Jul 2016
Lévy Eva, Stolzenberg Marie-Claude, Bruneau Julie, Breton Sylvain, Neven Bénédicte, Sauvion Sylvie, Zarhrate Mohammed, Nitschké Patrick, Fischer Alain, Magérus-Chatinet Aude, Quartier Pierre, Rieux-Laucat Frédéric
Abstract excerpt
LRBA (lipopolysaccharide-responsive and beige-like anchor protein) deficiency associates immune deficiency, lymphoproliferation, and various organ-specific autoimmunity. To date, prevalent symptoms are autoimmune cytopenias and enteropathy, and lymphocytic interstitial lung disease. In 2 siblings from a consanguineous family presenting with early onset polyautoimmunity, we presumed autosomal recessive inheritance...
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