A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection

作者：Chou Janet; Hsu Joyce T; Bainter Wayne; Al Attiyah Raja'a; Al Herz Waleed; Geha Raif S^*

来源：Clinical Immunology, 2015, 161(2): 128-130.

DOI：10.1016/j.clim.2015.08.003

• Chronic granulomatous disease
• Systemic lupus erythematosus
• Whole exome sequencing
• NCF2

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 setting of immunosuppressive medications. This report highlights the importance of considering CGD in patients who present initially exclusively with autoimmune disease.

• 出版日期2015-12