Chronic granulomatous disease presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis

Abstract

Chronic granulomatous disease (CGD) is an inherited neutrophil phagocytic function disorder leading to recurrent infections, granuloma formations, and rarely autoimmune diseases. We report a case of genetically proven autosomal recessive CGD in a child with a mutation in NCF2 gene resulting in p67phox defect presenting with foot abscess caused by Serratia marcescens and autoimmune dactylitis at the same time. The case emphasizes the importance to consider a primary immunodeficiency in patients with musculoskeletal manifestations who develop unusual or opportunistic infections. We also hope awareness among pediatricians may lead to increased recognition of the autoimmune manifestations of CGD.