I am a
Home I AM A Search Login

Papers of the Week


Allergy Asthma Clin Immunol


A novel mutation in resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease.


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 conditions, including noninfectious colitis, and an increased frequency of autoimmunity. We report here a patient with CGD in whom the presentation, unlike the classical presentation of CGD, was predominantly of an inflammatory and autoimmune phenotype.