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Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

16 Mar 2015

Abstract excerpt

OBJECTIVE: To identify the underlying genetic defect in a 16-year-old girl with severe early-onset and refractory systemic lupus erythematosus (SLE), IgA deficiency, and mild lower limb spasticity without neuroradiologic manifestations. METHODS: Whole-exome sequencing and extensive immunologic analysis were performed on samples from the index patient. RESULTS: We identified a de novo p.R779H IFIH1...

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PMID: 25777993
DOI: 10.1002/art.39110

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