X-linked chronic granulomatous disease (X-CGD) is a primary immunodeficiency caused by mutations in the CYBB gene. Patients with X-CGD are almost always male infants who present with abscess-forming infections involving catalase-positive bacteria and fungi. We present the case of a previously healthy adolescent female who suffered a prolonged breast infection that led to her diagnosis and eventually to appropriate therapy.
A 15yo previously healthy AA female presented to clinic with intermittent abscesses on trunk and extremities, worsening over the past two years. On presentation to clinic, an abscess measuring 2.5cm x 0.5 cm x 2.5 cm on her left breast had been draining and healing intermittently for 4 months while being treated with oral antibiotics. Debridement was performed with cultures that grew MSSA and the patient was placed on appropriate therapy. However, her abscess persisted until subsequent surgical debridement revealed the presence of Serratia marcescens which responded to appropriate therapy.
Screening immunoglobulin and complement tests were normal. A DHR flow cytometry test revealed twin peaks typical for X-CGD with only 10% of neutrophils demonstrating a normal oxidative burst. Genetic testing revealed a heterozygous mutation in CYBB gene (c.1359DelG) consistent with X-linked CGD carrier with extreme lyonization.
Most CGD patients are males who present in early childhood with a persistent infection due to a catalase-positive organism, but CGD should be considered in relatively healthy older females with persistent abscesses/cellulitis since X-CGD carriers with extreme lyonization may have a milder phenotype than females with autosomal recessive CGD.
- AAAAI 2015 (71st)