Factor xii deficiency with systemic lupus erythematosus

A patient with Factor XII (Hageman) deficiency and fulminant systemic lupus erythematosus is presented. The Factor XII deficiency was noted prior to the onset of clinical systemic lupus erythematosus and persisted throughout the patient's course without associated hemorrhagic manifestations. There was no evidence for a circulating anticoagulant. The patient had a rapidly progressive fatal course unresponsive to corticosteroid therapy. Factor XII levels did not increase during therapy with steroids. Despite absence of Hageman factor, evidence for activation of complement by the classic pathway and thromboembolic phenomenon was observed. The role of Factor XII in coagulation and inflammatory pathways and the influence of the factor deficiency on the course of the patient's illness are discussed.     

Immunoglobulin deficiency in patients with systemic lupus erythematosus

Hypergammaglobulinemia is a common laboratory finding in patients with active systemic lupus erythematosus; in contrast, immunoglobulin deficiency, except for immunoglobulin A, is unusual. We report 18 patients who developed low immunoglobulin G levels 4 months to 22 years (median = 4 years) following the diagnosis of systemic lupus erythematosus. This phenomenon was transient in 10 patients (median duration 10.5 months). Eight patients had received cytotoxic drugs prior to the development of hypogammaglobulinemia, while all had received prednisone. The nadir levels of serum IgG were 132-550 mg/dl (median = 363 mg/dl). The presence and degree of immunoglobulin G deficiency did not correlate, in general, with the type or dose of medication. None of the patients had renal failure. Only 4 patients developed recurrent infections. Urinary loss of protein was not a cause of this disorder. Study of the in vitro cellular immune responses of peripheral blood lymphocytes in 5 patients showed that excessive 'suppressor' T cell activity and decreased numbers of B cells may be responsible for the development of immunoglobulin deficiency. Serum immunoglobulin levels should not be employed as an indication of disease activity in systemic lupus erythematosus, as all 18 patients continued to have significant clinical disease. Deficiencies of immunoglobulins are often transient and may not require treatment.     

Biological treatments for systemic lupus erythematosus

There have been many recent advances in therapeutic approaches to systemic lupus erythematosus (SLE). The roles of cyclophosphamide, hydroxychloroquine, methotrexate and hormonal treatments in the management of SLE have been investigated in recent randomised controlled trials (1). However, although these pharmacological agents have a role to play in some patients with lupus, broad based effects have led to problems with side effects and adverse reactions. For this reason, more specific therapies are urgently required. Such strategies currently under evaluation include altering the cytokine balance, reducing T cell activation and inducing tolerance, blocking T cell costimulatory molecules, reducing auto-antibody production from B cells, targetting specific genes and stem cell transplantation. These are known as "biological" treatments as their aim is to alter patho-physiological processes occurring in the diseased state. This review will focus on the biological therapies currently under investigation-with particular attention on the cytokine-directed therapies.     

Apoptosis in systemic lupus erythematosus. Clinical implications

SLE is a heterogeneous and complex group of disorders of uncertain cause. Recent studies have suggested that abnormalities in the apoptotic cell death process may play an important role in the initiation and propagation of this spectrum of disease by altering the generation and cleavage of antigens, and through abnormalities in immunoregulation. The clustering and concentration of autoantigens in and on the surface blebs of apoptotic cells, modifications of antigen structure during certain forms of apoptotic death, and abnormalities in apoptotic cell clearance in humans with SLE and in certain animal models are reviewed and synthesized into a comprehensive model of systemic autoimmunity.     

Genetics of systemic lupus erythematosus. Clinical implications

Rheumatic diseases have long been recognized as having complex inheritance patterns. It has recently been estimated that over 100 genes may be implicated in the SLE disease process. Identification of these genes has led to a greater understanding of the etiopathogenesis of SLE and is beginning to lead to new types of interventions directed at correcting aberrant biological processes.     

Vitamin D deficiency in a patient with systemic lupus erythematosus

SIR, You would not imagine that the patient illustrated oppositewas vitamin D-deficient. However, she is a 21-yr-old Caucasianwith systemic lupus erythematosus (SLE). Because of the natureof her condition she has to wear sunblock factor 30 all yearround. Her tanned appearance is not derived from UVB exposurebut from self-tanning agents. She was diagnosed with SLE in 1997. Initially she presentedwith a widespread photosensitive rash. She was found to be positivefor antinuclear antibodies and double-stranded DNA antibodies.A skin biopsy was consistent with cutaneous lupus. Photosensitivity     

维生素D缺乏与系统性红斑狼疮的相关性研究

目的 探讨系统性红斑狼疮（SLE）患者维生素D缺乏现象与疾病活动性的相关性.方法 选取60例SLE患者及30例健康志愿者,收集研究对象临床资料;ELISA法检测血清25-羟基维生素D[25-（OH）D]水平;采用Pearson相关分析法分析血清25-（OH）D水平与SLE疾病活动指数（SLEDAI）、抗ds-DNA抗体滴度、补体C3、补体C4、尿蛋白定量、血清免疫球蛋白G（IgG）的相关性.结果 （1）SLE患者血清25-（OH）D水平[36.8（23.4,53.2）nmol/L]较健康志愿者[58.8（51.1,65.3） nmol/L]明显降低（P＜0.01）;（2）SLE患者中维生素D缺乏比例为53.3％,严重维生素D缺乏比例为15.0％,健康志愿者中维生素D缺乏比例为23.3％,严重维生素D缺乏比例为6.7％,两组比较差异具有统计学意义（P＜0.01）.（3）SLE患者血清25-（OH）D水平与SLEDAI（r=-0.35,P＜0.05）及抗ds-DNA抗体滴度（r=-0.42,P＜0.05）呈负相关,与补体C3（r=0.25,P＜0.05）、补体C4（r=0.28,P＜0.05）呈正相关,与尿蛋白定量、血清IgG水平无明显相关性（P＞0.05）.结论 SLE患者中维生素D缺乏现象普遍存在,血清维生素D水平与疾病活动性具有一定相关性.     

Factor XII autoantibodies as a novel marker for thrombosis and adverse obstetric history in patients with systemic lupus erythematosus

AIM: To investigate the clinical significance of anti-factor XII (FXII) in a large cohort of patients with systemic lupus erythematosus (SLE). PATIENTS AND METHODS: This study comprised 127 patients with SLE. IgG and IgM anti-FXII were tested by an in-house ELISA. 123 healthy donors comprised the control group. RESULTS: 51 (40%) patients with SLE and 9 (7%) healthy controls were positive for anti-FXII. IgG and IgM anti-FXII were frequently found in patients with thrombosis (28% and 13%, respectively). Levels of IgG and IgM anti-FXII were higher in patients with thrombosis than in the control group (p<0.001 and p=0.005, respectively). Anti-FXII was more frequent in patients with arterial thrombosis (31% vs 4% for IgG and 14% vs 3% for IgM, respectively) and venous thrombosis than in controls (37% vs 4% for IgG). IgG anti-FXII were more frequent in patients with miscarriages and fetal death (35% and 40% vs 4% for IgM). The prevalence of IgM anti-FXII was not different between groups. CONCLUSION: Anti-FXII are frequent in patients with SLE. Their presence is associated with thrombosis and adverse obstetric history, making these antibodies a novel marker for the antiphospholipid syndrome.     

Selective IgA deficiency in children and adults with systemic lupus erythematosus

The objective of this study was to determine the frequency and clinical characteristics of selective IgA deficiency (SIgAD) in children and adults with systemic lupus erythematosus (SLE), and evaluate potential differences in presentation and course of the SLE. IgA deficiency was defined as a serum IgA concentration < or =0.01 mg/mL determined on two sera by radial diffusion. SLE was classified by the 1982 criteria of the American College of Rheumatology. Seventy-seven children with SLE followed prospectively for > or =20 years and 152 adults surveyed during a one-year period were assayed for serum IgA levels. Disease characteristics were compared among the deficient patients and the IgA-normal patients. Twelve patients with SIgAD were identified: 1) Juvenile(J)-SLE: four children with juvenile onset (< or =18 years) and four others encountered as adults; and 2) Adult(A)-SLE: four patients with adult onset. No significant differences were found in clinical presentation or course except for a possible increase in recurrent infections and the observation that there were only two African-Americans. Five patients had received blood transfusions with no reactions; three of these patients had serum anti-IgA antibodies. One pediatric patient developed low levels of IgA (相似文献   

ANA-negative systemic lupus erythematosus.

The presence of antinuclear antibodies (ANA) in serum is generally considered a decisive diagnostic sign of systemic lupus erythematosus (SLE). Ten patients with clinical signs of disease but persistent negative tests for ANA are examined in this study. Hair fall, Raynaud's phenomenon and recurrent oral ulcers were common in the ANA-negative group. ANA-negative SLE seems to be a subgroup of SLE that has not previously been given adequate attention.     

Triplets with systemic lupus erythematosus

We present herein the first case report of identical triplets who developed systemic lupus erythematosus (SLE). The children were diagnosed as having SLE in reverse birth order at ages 8, 9, and 11 years. Although genetically identical, each sibling manifested different clinical signs and symptoms; however, all 3 children did manifest skin rash, fatigue, and biopsy-proven glomerulonephritis at different ages. Findings of laboratory studies were similar, including positivity for antinuclear antibodies, anti-native DNA, and anti-double-stranded DNA, as well as low levels of complement. These findings confirmed SLE in each sibling.     

Transient lupus anticoagulant associated with hypoprothrombinemia and Factor XII deficiency following adenovirus infection

Summary A potent lupus anticoagulant (LA) was detected in four children, 1 week after the clinical onset of an adenovirus infection. The adenovirus infection was documented by direct virus detection in the stool of one patient and serologically in the others. None of the children had elevated titers of IgM- and only one of IgG-anticardiolipin antibodies (ACA). All patients had a marked reduction of prothrombin activity as well as antigen. Prothrombin-antibody complexes were demonstrated in the patients' plasma or mixtures of patient and normal plasma. Factor XII activity was moderately reduced in three of the patients. All coagulation abnormalities returned to normal within 4–12 weeks. Localized bleeding was observed in two cases, but there was no generalized bleeding tendency or evidence of thrombosis.