Newly diagnosed chronic granulomatous disease in a 44 year old male presenting with recurrent groin cellulitis and colitis

Chronic Granulomatous Disease (CGD) is an inherited deficiency which results from the absence or dysfunction of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits in phagocytic cells. This condition is usually diagnosed in early childhood and presents with recurrent infections at epithelial surfaces such as the skin, lungs, and gut. We present a case of CGD which was diagnosed late in adulthood. A forty-four year old male was admitted to hospital with fever, testicular pain and an acute onset of swelling of his penis and scrotum. His past history was significant for Crohn’s disease diagnosed at age sixteen; stable on treatment with mesalamine (Asacol®). He also had recurrent soft tissue infections of his penis and/or scrotum since childhood, approximately 2 or 3 in total, to his recollection. There was no history of abscesses or sexually transmitted infections. However, the patient did complain of frequent upper respiratory tract infections each winter. He had no family history of primary immunodeficiency disease. During admission, he was assessed by urology and general surgery. Both confirmed the absence of any anatomic abnormalities. An immunologist suggested work up for immunodeficiency. Basic laboratory investigations were normal, with a white blood cell count of 7.8 × 10 L. C-reactive protein was elevated at 69.7 mg/L. Both his rheumatoid factor and HIV testing were negative. Serum levels of IgA, IgM and IgG levels were all within normal limits (Table 1 reports full details of his immunology investigations) Blood cultures were negative. A CT scan of the chest was normal. CT scan of the abdomen and pelvis revealed no subcutaneous air to suggest a necrotizing infection. Quantitative dihydrorhodamine (DHR)123 flow cytometry assay revealed the complete absence of an oxidative burst response; this was confirmed three times. This was suggestive of a neutrophil NADPH oxidase deficiency associated with CGD. The patient was treated with intravenous cefazolin and metronidazole and discharged home on clindamycin. His cellulitis resolved within weeks, but he experienced a recurrence approximately 6 months later. He was started on trimethoprim-sulfamethoxazole (TMP-SMX), amoxicillin, and itraconazole as prophylactic therapy to prevent future infections. He was assessed by the Infectious Disease service, who simplified his prophylactic regimen to TMP-SMX 160/800 q Mon/Wed/Fri and Penicillin V K 300mg OD based on risk assessment and previous infective patterns. Interferon-gamma was considered, but based on restricted availability at the time and his relatively stable clinical course to date, we elected to pursue antibiotic prophylaxis and active surveillance alone. Genetic testing, performed by the Hospital for Sick Children in Toronto, confirmed a diagnosis of CGD and revealed a homozygous mutation in the NCFI gene (P47). It was recommended that directly family members receive DHR flow cytometry screening but this was declined.

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