• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1029-1031
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• 2003

Hemophagocytic lymphohistiocytosis is a reactive disorder characterized by a generalized non-malignant histiocytic proliferation with prominent hemophagocytosis by stimulated histiocytes in the bone marrow and reticuloendothelial systems resulting in pancytopenia and liver dysfunction. Several diseases including infection, malignancy and autoimmune disease are known to be causative disorders. This case demonstrated histiocytic hemophagocytosis in the bone marrow, resulting in pancytopenia during treatment of systemic lupus erythematosus and did not show any underlying disease.

• Childhood Kidney Diseases
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• v.11 no.2
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• pp.288-293
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• 2007

Thrombotic thrombocytopenic purpura(TTP) is a rare but life-threatening multi-system disorder characterized by the classic pentad of clinical features that includes fever, microangiopathic hemolytic anemia, thrombocytopenia, neurologic abnormalities and renal dysfunction. TTP has been rarely reported to simultaneously present with systemic lupus erythematosus (SLE). While it is important to distinguish between the two diseases of therapeutic implication, cases of concurrent TTP and SLE help to elucidate the pathophysiology that underlies each condition. We describe two adolescents with synchronous TTP and SLE, and review the literature.

• Korean Journal of Veterinary Research
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• v.49 no.1
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• pp.73-78
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• 2009

Discoid lupus erythematosus (DLE) is an immune-mediated skin disease which requires histopathology and immunohistopathology in both dogs and humans. A 10-month-old, intact female Alaskan Malamute presented for depigmentation, swelling, alopecia, erythema, and crusting on the bridge of the nose and the nasal planum. Cytological examination of nasal lesions revealed numerous cocci and neutrophils. Histopathological features included of infiltration of mononuclear cells at the dermoepidermal junction. Direct immunofluorescence tests and immunohistochemistry exhibited positive IgG, IgM, IgA, CD3, CD18, and CD79a on the epidermal basement membranes and around adnexal glands. This case indicates both T cells and B cells are related to mechanism of canine DLE. This case report describes advanced diagnostic tests and clinical outcome with immune suppressive therapy in a rare juvenile canine DLE case.

• Genomics & Informatics
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• v.14 no.3
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• pp.85-89
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• 2016

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems. Although the etiology of SLE remains unclear, it is widely accepted that genetic factors could be involved in its pathogenesis. A number of genome-wide association studies (GWASs) have identified novel single-nucleotide polymorphisms (SNPs) associated with the risk of SLE in diverse populations. However, not all the SNP candidates identified from non-Asian populations have been validated in Koreans. In this study, we aimed to replicate the SNPs that were recently discovered in the GWAS; these SNPs have not been validated in Koreans or have only been replicated in Koreans with an insufficient sample size to conclude any association. For this, we selected five SNPs (rs1801274 in FCGR2A and rs2286672 in PLD2, rs887369 in CXorf21, rs9782955 in LYST, and rs3794060 in NADSYN1). Through the replication study with 656 cases and 622 controls, rs1801274 in FCGR2A was found to be significantly associated with SLE in Koreans (odds ratio, 1.26, 95% confidence interval, 1.06 to 1.50; p = 0.01 in allelic model). This association was also significant in two other models (dominant and recessive). The other four SNPs did not show a significant association. Our data support that FCGR polymorphisms play important roles in the susceptibility to SLE in diverse populations, including Koreans.

• Journal of Yeungnam Medical Science
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• v.23 no.1
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• pp.113-117
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• 2006

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that may affect many organ systems including the nervous system. The immune response in patients with SLE can cause inflammation and other damage that can cause significant injury to the arteries and tissues. A 48-year-old woman was admitted to the hospital because of transient monocular blindness. Magnetic resonance imaging and conventional angiography showed severe stenosis of the distal intracranial internal carotid artery. The patient was diagnosed as having SLE but the antiphospholipid antibodies were negative. Amaurosis fugax has not been previously reported as an initial manifestation of SLE in Korea. We report a patient with a retinal transient ischemic attack as the first manifestation of SLE.

• Genomics & Informatics
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• v.21 no.3
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• pp.37.1-37.11
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• 2023

Systemic lupus erythematosus (SLE) is an inflammatory-autoimmune disease with a complex multi-organ pathogenesis, and it is known to be associated with significant morbidity and mortality. Various genetic, immunological, endocrine, and environmental factors contribute to SLE. Genomic variants have been identified as potential contributors to SLE susceptibility across multiple continents. However, the specific pathogenic variants that drive SLE remain largely undefined. In this study, we sought to identify these pathogenic variants across various continents using genomic and bioinformatic-based methodologies. We found that the variants rs35677470, rs34536443, rs17849502, and rs13306575 are likely damaging in SLE. Furthermore, these four variants appear to affect the gene expression of NCF2, TYK2, and DNASE1L3 in whole blood tissue. Our findings suggest that these genomic variants warrant further research for validation in functional studies and clinical trials involving SLE patients. We conclude that the integration of genomic and bioinformatic-based databases could enhance our understanding of disease susceptibility, including that of SLE.

• Clinical and Experimental Pediatrics
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• v.50 no.1
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• pp.74-78
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• 2007

Purpose : Systemic lupus erythematosus (SLE) is a chronic multisystemic autoimmune disease with complex clinical manifestations. It probably involves genetic, environmental and immunologic factors. In this study, we investigated the clinical manifestations, laboratory findings and prognosis of pediatric SLE to aid clinical care of pediatric SLE. Methods : The data of 45 patients who were diagnosed as pediatric SLE in Severance Children's Hospital from Jan. 1996 to Dec. 2005 were analysed retrospectively. Results : The mean age at diagnosis was 10.8 (0-15) years old. And the ratio of male to female patients was 1:4. The initial manifestations were facial edema (51.1 percent), malar rash (44.4 percent), and fever (28.9 percent). The ANA (97.8 percent), anti-ds DNA antibody (82.2 percent), lupus nephritis (71.1 percent), malar rash (71.1 percent), and cytopenia (66.7 percent) were the most common findings among the classification criteria by ACR (American College of Rhematology, 1997). Conclusion : Clinical manifestations and prognosis are various in pediatric SLE. Intensive studies of SLE in children should be continued for more effective treatment.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.128-131
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• 2014

Histopathologic evidence of "full-house" immune complex deposits is a pathognomonic feature of lupus nephritis. This report presents the case of a 12-year-old boy with persistent microscopic hematuria and proteinuria. He was diagnosed with "full-house" nephropathy based on a renal biopsy. However, there was no other clinical or biological evidence of systemic lupus erythematosus (SLE). Although the potential for isolated "full-house" nephropathy preceding SLE is unclear, such patients should be followed for clinical signs and autoantibodies of SLE. In most cases, microscopic hematuria has a good prognosis, and follow-up usually requires only regular urinalysis. However, we should be aware of isolated "full-house" nephropathy that remains asymptomatic for a long time, as few patients with no clinical signs and negative serology ultimately develop SLE.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.227-232
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• 2008

A 16-year-old girl presented with proteinuria and microscopic hematuria detected through mass urinary screening and was diagnosed as having suspected postinfectious glomerulonephritis by renal biopsy. However, heavy proteinuria did not respond to angiotensin converting enzyme inhibitor therapy. After 6 months, cervical lymphadenitis developed and a neck node biopsy showed subacute necrotizing lymphadenitis. After an additional 2 months, she developed facial erythema and thrombocytopenia. A repeat renal biopsy demonstrated lupus nephritis class IV. She was treated with pulse methylprednisolone(500 mg/day intravenously for 3 consecutive days) followed by oral deflazacort and monthly intravenous cyclophosphamide pulse(1 g/$m^2$) for 6 months. We report a case diagnosed as systemic lupus erythematosus(SLE) during medical follow-up after urinary screening.

• Korean Journal of Clinical Laboratory Science
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• v.56 no.3
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• pp.207-216
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• 2024

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease caused by both genetic and environmental factors. Fludarabine is a selective inhibitor of signal transducer and activator of transcription 1 (STAT1). Recently, STAT1 inhibitors have been considered potential treatments for SLE, due to the relationship between its pathogenesis and STAT1 pathway-mediated cytokines such as interferons. In the current study, we evaluated the therapeutic effects of fludarabine in an SLE animal model and explored its effects on T cell responses. 12-week-old C57BL/6 mice with topically administered R848 exhibited lupus-like phenotypes. Disease activity, such as proteinuria, autoantibody levels, immunoglobulin titers, the histological score, and C3 deposition, greatly improved with fludarabine treatment. In addition, fludarabine inhibited CD4⁺ T cells and T helper 1 (Th1) cells in the spleen and significantly decreased the differentiation of Th1 cells in vitro. These results indicate that Th1 cells play a critical role in the pathogenesis of lupus nephritis (LN). Thus, fludarabine exerted therapeutic effects on lupus animal models by suppressing Th1 cells via STAT1 inhibition. We propose that targeting STAT1 signaling using fludarabine could be an effective therapy for treating LN.