Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Schnitzler syndrome is characterized by a chronic urticarial eruption with a monoclonal IgM gammopathy. The other signs of the syndrome include intermittent elevated fever, joint and/or bone pain with radiologic evidence of osteosclerosis, palpable lymph nodes, enlarged liver and/or spleen, elevated erythrocyte sedimentation rate, and leukocytosis. The mean delay to diagnosis is more than 5 years, and this syndrome is of concern to internists and many medical specialists. Patients with this syndrome are often initially considered to have lymphoma or adult-onset Still disease, which are the main differential diagnoses. However, hypocomplementic urticarial vasculitis, systemic lupus erythematosus, cryoglobulinemia, acquired C1 inhibitor deficiency, hyper IgD syndrome, chronic infantile neurologic cutaneous and articular (CINCA) syndrome, and Muckle-Wells syndrome should also be excluded, because diagnosis relies on a combination of clinical and biologic signs and there is no specific marker of the disease. The disease pursues a chronic course, and no remissions have yet been reported. Disabling skin rash, fever, and musculoskeletal involvement are the most frequent complications. Severe anemia of chronic disease is another serious complication. The most harmful complication, however, is evolution to an authentic lymphoplasmacytic malignancy, which occurs in at least 15% of patients. This hematologic transformation can occur more than 20 years after the first signs of the disease, thus patients deserve long-term follow-up. Treatment is symptomatic and unsatisfactory. The skin rash is unresponsive to treatment, and nonsteroidal antiinflammatory drugs, antihistamines, dapsone, colchicine, and psoralens and ultraviolet A (PUVA) therapy give inconstant results. Fever, arthralgia, and bone pain often respond to nonsteroidal antiinflammatory drugs. In some patients, these symptoms and/or the presence of severe inflammatory anemia require steroids and/or immunosuppressive treatment, which ameliorate inflammatory symptoms but do not change the course of the skin rash.
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PMID:The Schnitzler syndrome. Four new cases and review of the literature. 1120 1

Neonatal autoimmune diseases are distinctly rare. Most neonatal autoimmune diseases result from the transplacental transfer of maternal antibodies directed against fetal or neonatal antigens in various tissues. In neonatal lupus, the heart seems to be particularly susceptible. Primary autoimmunity in newborns, with the exception of familial autoinflammatory diseases, is virtually non-existent. The pathophysiologic basis for the development of neonatal autoimmunity is not entirely clear, but differences in the neonatal immune system compared with the adult immune system, as well as unique characteristics of target antigens in the newborn period may be important factors. Neonatal lupus is the most common presentation of autoimmunity in the newborn. But the characteristics defining neonatal lupus are not well defined and the presentation of neonatal lupus differs from that of classical lupus. Other neonatal autoimmune diseases involving the interaction between maternal antibodies and fetal/neonatal antigens include neonatal anti-phospholipid syndrome, Behcet's disease, neonatal autoimmune thyroid disease, neonatal polymyositis and dermatomyositis, neonatal scleroderma and neonatal type I diabetes mellitus. While autoantibodies have been detected in patients with neonatal autoimmune disease, the pathogenic role of autoantibodies has not been well defined. Other mechanisms may play a role in the development of neonatal autoimmunity, including fetal/maternal microchimerism and aberrant apoptosis of fetal cells. The autoinflammatory syndromes are a completely different category, but are also included in discussion of neonatal autoimmune diseases. The autoinflammatory syndromes include the cryopyrin associated periodic syndromes (CAPS) - familial cold autoinflammatory syndrome (FCAS), neonatal onset multisystem inflammatory disease (NOMID) and Muckle-Wells syndrome, which all share a common pathophysiologic mechanism.
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PMID:Neonatal autoimmune diseases: a critical review. 2240 39

Autoimmune and autoinflammatory diseases are two distinct disease entities that can present in the neonate. Autoimmune diseases of the newborn primarily include neonatal lupus and neonatal anti-phospholipid syndrome, but other diseases have been reported as well. The pathogenic mechanisms behind autoimmune diseases of the newborns are unknown, but an association with antibodies to Ro and La is present in most cases. The extent to which these antibodies play a pathogenic role is unknown. Because the phenotype of clinical neonatal lupus is variable in many mothers who possess the antibodies, other mechanisms may be necessary to confer disease. The primary theories include apoptosis of cardiac cells, maternal microchimerism, cross-reactivity of the autoantibodies with cardiac tissue, T cell dysregulation and inhibitory receptors, and a genetic predisposition. The autoinflammatory diseases are unrelated to neonatal autoimmune diseases and include the cryopyrin-associated periodic syndromes (CAPS). These diseases include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disease (NOMID). All of these diseases share a defect in a common gene--the CIAS1 or NALP3 gene on chromosome 1. The diseases vary in severity and involvement of different physiologic systems, with FCAS being the mildest form and NOMID being the most severe form with involvement of the neurologic and hematologic systems. Aberrant functioning of the inflammasome may play a role in the pathogenesis of autoinflammatory diseases.
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PMID:The pathogenesis of neonatal autoimmune and autoinflammatory diseases: a comprehensive review. 2337 46