Chronic granulomatous disease (CGD) is an inherited immunodeficiency predisposing to recurrent invasive infections and non-infectious granulomatous disease. Autoimmune manifestations, mainly discoid lupus erythematosus (DLE), have been described in CGD patients and reported in about one quarter of X-linked carriers. However, systemic lupus erythematosus (SLE) has been rarely reported as a prominent feature of CGD patients.
We report on a case of familial SLE revealing late-onset X-linked CGD.
A 15-year-old man from a non-consanguineous French family developed photosensitivity with typical malar rash eruption, Raynaud phenomenon, peripheral synovitis and cutaneous vasculitis. Isolated lupus anticoagulant was detected and SLE was diagnosed. Hydroxychloroquine treatment led to clinical improvement. Past medical history was remarkable for recurrent skin abscesses. Familial history taking revealed maternal SLE and Sjögren syndrome. 15 years later, at the age of 30, the patient was admitted for prolonged fever and cough. CT-scan revealed lingular condensation and left pleural effusion. Burkholderia multivorans grew up from the thoracentesis specimen. Lung infection resolved after prolonged antibiotic therapy. Dihydrorhodamine test (DHR) showed severely impaired respiratory burst in the patient’s leukocytes (1% activity). Her mother showed a typical mosaic pattern. X-linked CGD was genetically confirmed with the finding of CYBB missense mutation in the this kindred.
Familial SLE belongs to the spectrum of X-linked CGD. Autoimmune manifestations can be at the foreground of the clinical picture with only secondary development of typical infectious manifestations. Infections in SLE patients may point to an underlying primary immune defect.