A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease
Abstract Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease primarily presents with recurrent infections, and patients may also present with inflammatory...
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| Format: | Article |
| Language: | English |
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BMC
2019-11-01
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| Series: | Allergy, Asthma & Clinical Immunology |
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| Online Access: | http://link.springer.com/article/10.1186/s13223-019-0386-6 |