Article
A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.
Clinical immunology (Orlando, Fla.) - 1 Dec 2015
Chou Janet, Hsu Joyce T, Bainter Wayne, Al-Attiyah Raja'a, Al-Herz Waleed, Geha Raif S
Abstract excerpt
Chronic granulomatous disease (CGD) is typically characterized by recurrent infections, granulomatous disease, and an increased susceptibility to autoimmune disease. We report a novel homozygous mutation in NCF2 that permits residual expression of an alternatively spliced variant in a patient with duodenitis and systemic lupus erythematosus (SLE), followed by a late-onset, single pulmonary infection in the...
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