ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES

PV289 / #142 Case Report Poster Topic: AS14 - Innate Immunity Introduction Chronic granulomatous disease (CGD) is a genetic immunodeficiency disorder characterized by recurrent bacterial and fungal infections. CGD can manifest in various ways, ranging from mild infections to potentially life-threatening complications. The association between CGD and systemic lupus erythematosus (SLE) is rare. We report the cases of 2 female patients with CGD who developed manifestations of systemic lupus erythematosus. Case Presentation With Investigation Observation 1: This case involves a 38-year-old female patient from a consanguineous marriage. Her medical history included multiple episodes of urinary infections with catalase-positive organisms since the age of 18, recurrent pulmonary infections, and a bacterial meningitis episode at the age of 32. In the course of the etiological assessment of these infections, a nitroblue tetrazolium (NBT) test showed collapsed oxidative activity in neutrophils. Therefore, the patient was diagnosed with chronic granulomatous disease. Six years later, at the age of 38 years, she presented with a sudden onset of painful, erythematous papules and nodules on her face, forearms, and legs, accompanied by a fever of 39°C. A skin biopsy revealed neutrophilic dermatitis, suggestive of Sweet syndrome. She also exhibited joint involvement in the form of chronic nondeforming bilateral polyarthritis, significant pericardial effusion, and moderate bilateral pleurisy. Laboratory tests revealed positive antinuclear antibodies at 1/1280 with a homogeneous pattern, positive anti-DNA antibodies at 40, positive antinucleosome antibodies, and consumption of C3 and C4 complement levels. A diagnosis of SLE, revealed by Sweet’s syndrome, was established, with hematological, articular, and serosal involvement. Hydroxychloroquine was not initiated because of visual field impairment, but the patient was administered corticosteroid therapy with good clinical and biological evolution. Observation 2:This case involved a 23-year-old female patient, also from a consanguineous marriage, who had been followed up for CGD since the age of 6. Her medical history included tuberculous adenitis at age 4 years, pulmonary aspergillosis at age 6 years, and osseous aspergillosis at age 8 years. The NBT test showed no oxidative activity of neutrophils, and she was placed on prophylactic treatment with sulfamethoxazole/trimethoprim. At age 20 years, the patient experienced deep vein thrombosis of the right lower limb, for which she was treated with low-molecular-weight heparin, followed by anticoagulation with a vitamin K antagonist. Two years later, the patient presented with a sudden decrease in visual acuity, revealing occlusion of the central retinal artery and vein. The antiphospholipid syndrome workup revealed positive anticardiolipin IgG antibodies on 2 occasions, along with the presence of circulating lupus anticoagulant. A few months later, she presented with malar rash, photosensitivity, and finger chilblains. Laboratory tests showed positive antinuclear antibodies at 1/640, anti-DNA antibodies, anti-Sm antibodies, and consumption of C3 and C4 complement levels. SLE was diagnosed, and hydroxychloroquine was started with good clinical outcomes. Literature Review An association between CGD and autoimmune diseases has been rarely observed, but this relationship is poorly understood. Insufficient bactericidal activity may lead to chronic antigenic stimulation, which could explain the development of autoimmune diseases. Another hypothesis is that this association may result from T cell dysregulation and an inflammatory state characterized by excessive interleukin-7 production, particularly in cases of pulmonary aspergillosis. Discussion Although the association between CGD and SLE is rare, it underscores the importance of thorough clinical evaluation of patients with recurrent infections and autoimmune symptoms. Recognizing this association can be crucial for diagnosis and therapeutic management, as it may influence the choice of immunosuppressive treatment and monitoring of infectious complications.