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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...
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