X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation

The patient is a 17-year-old girl referred to our primary immunodeficiency consult service after the diagnosis of a complicated left deltoid abscess due to Salmonella Typhimurium. Three months earlier she had noticed a stiff lesion in the left upper arm similar to an insect sting, which was diagnosed as cellulitis and treated with oral flucloxacillin for 8 days. Two weeks later she presented with fever and a local abscess. The abscess was drained and treated with oral amoxicillin-clavulanic acid.

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