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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the first report of neonatal lupus erythematosus from Taiwan. A female baby, born to a mother with documented systemic lupus erythematosus (SLE), developed cutaneous lupus lesions after phototherapy for hyperbilirubinemia. She had additional clinical features of hemolytic anemia and thrombocytopenia. Detailed serological and immunogenetic studies were performed. Transplacental passage of both anti-SSA/Ro and anti-SSB/La antibodies were demonstrated and their disappearance at the age of 6 months correlated with regression of clinical symptoms. This patient inherited human leukocyte antigen (HLA) A11, Bw60 Cw3, DR2 and Aw33, Bw57, Cw7, DRw6 from her father and mother, respectively. A long-term follow-up is required for observing whether she will develop SLE in the future.
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PMID:Neonatal lupus erythematosus: report of a case. 259 47

This study focused on clinical subsets within systemic lupus erythematosus (SLE) in order to identify more homogeneous patient groups in which to define disease susceptibility gene(s). Analysis of the major histocompatibility complex gene products and genes with major histocompatibility complex class II and class III locus-specific probes and oligonucleotide probes for selected human leukocyte antigen DQ-beta alleles showed significant increases of human leukocyte antigen DR2 and the rare DQ-beta allele DR2-DQw1.AZH in the lupus nephritis patients compared with lupus patients without renal disease (relative risk = 8.3). C4A null was detected in one third of all of the SLE patients. In two thirds of the C4A null patients this was due to a DR3-associated C4A gene deletion. The remaining third may have a regulatory defect and this was DR2-associated. DR4 was significantly decreased in the nephritis patients in comparison with the non-renal SLE patients (relative risk = 0.3). A novel DQ-beta gene has been sequenced from two SLE patients that has not been observed in the normal population. Potential implications of these findings are discussed.
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PMID:Major histocompatibility complex associations with systemic lupus erythematosus. 290 62

Many patients with systemic lupus can be treated effectively with antimalarials and nonsteroidal anti-inflammatory drugs without ever having to take systemic corticosteroids at all or for any significant length of time. On the other hand, some patients with life-threatening disease, active major organ disease, or intolerable corticosteroid toxicities should be given immunosuppressive drugs, plasmapheresis, and/or other therapies in addition to corticosteroids early in their disease course, before permanent, end-organ damage occurs and before the predictable serious and debilitating toxicities of prolonged, daily high-dose corticosteroids develop. Just as lupus patients now routinely undergo detailed serologic testing, it is conceivable that, in the future, routine determination of human leukocyte antigen (HLA) haplotypes45 and T-cell subsets88a will help define, at disease onset, those patients who are destined to have severe disease. Perhaps this knowledge, combined with a better understanding of the exact mechanisms of action of these disease-modifying therapies, will allow a more rational approach to the treatment of SLE.
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PMID:Treatment. Disease-modifying therapies. 304 90

The clinicopathologic and serologic findings of thirteen patients with subacute cutaneous lupus erythematosus are reported. The clinical and immunologic features are similar to those described by most other authors. From a histologic point of view, however, two aspects could be emphasized: the presence of a larger number of epidermal colloid bodies and severe epidermal necrosis (more than 60% of cases). All patients with this microscopic picture have a similar clinical and serologic pattern: annular lesions, anti-Ro antibodies and human leukocyte antigen-DR3.
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PMID:Subacute cutaneous lupus erythematosus: clinicopathologic findings in thirteen cases. 306 Apr 84

Systemic lupus erythematosus (SLE) is a disease characterised by diverse clinical manifestations and the presence of multiple autoantibodies. There are multiple aetiological factors involved in its pathogenesis. Genetic factors do play an important role and the major histocompatibility complex has been studied extensively and many human leukocyte antigen (HLA) associations have been reported. Twin and familial lupus studies confirm the importance of genetic factors in the development of SLE. Reported HLA associations range from that of HLA-DR3 in Caucasians to HLA-DR2 in Chinese, Japanese and American Blacks. These associations however may only represent linkage disequilibrium and not the actual susceptibility genes. Other non-major histocompatibility complex genes have also been reported to play important roles in the pathogenesis of lupus. The advent of molecular biological techniques has advanced the understanding of susceptibility genes in many diseases. The use of microsatellite genome scanning to study multiplex lupus families has yielded a wealth of information on clusters of susceptibility genes. The identification of these genes will be an important advance in the understanding of this complex disease.
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PMID:The genetics of systemic lupus erythematosus. 958 74

Autoantibody production is commonly associated with particular HLA class II phenotypes. The aim of the present study was to investigate whether the presence of antiphospholipid (APL) antibodies and other autoantibodies in women with unexplained recurrent miscarriage was associated with particular human leukocyte antigen (HLA)-DR or -DQ alleles or linked epitopes which have previously been reported as being associated with the recurrent miscarriage syndrome or the presence of APL. In a total of 123 Danish and Czech women with recurrent miscarriage, serum was investigated for six different APL antibodies including anticardiolipin (ACL) antibody. Antinuclear antibodies (ANA), anti-zona pellucida antibodies and anti-sperm antibodies were also investigated. The women were HLA-DR and -DQ typed by DNA-based methods. The frequency of HLA-DR phenotypes did not differ significantly between APL antibody positive recurrent miscarriage patients and APL antibody negative recurrent miscarriage patients or healthy controls. Among ACL antibody positive recurrent miscarriage patients, significantly more were positive for the HLA-DR3 phenotype and negative for the HLA-DR2 phenotypes compared with healthy controls (P < 0.05). Among ANA positive recurrent miscarriage women, 55% carried the HLA-DR3 phenotype compared with 28% of ANA negative patients (P < 0.05) and 21% of healthy controls (P < 0.002). In conclusion, among recurrent miscarriage women, the HLA-DR3 phenotypes seem to predispose to formation of ACL antibodies and ANA. The association between APL antibodies and particular HLA alleles and HLA-linked epitopes reported in studies of patients with lupus erythematosus (e.g. HLA-DR7 and -DR4) could not be confirmed in patients with recurrent miscarriage.
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PMID:Studies on associations between human leukocyte antigen (HLA) class II alleles and antiphospholipid antibodies in Danish and Czech women with recurrent miscarriages. 988 8

Recent evidence suggests that polymorphic light eruption (PLE) is an inherited photosensitivity disorder which may predispose to cutaneous lupus erythematosus (LE). In this study we examine the relative risk (RR) attributable to the presence of PLE, together with the effect of the major histocompatibility complex (MHC) in the development of cutaneous LE. Eighty-five Caucasian patients with annular subacute cutaneous LE (SCLE) and discoid LE (DLE) were recruited, together with 102 first degree relatives and 200 healthy local Caucasian controls. Symptoms suggestive of PLE were elicited in patients and relatives, and human leukocyte antigen (HLA) typing determined by PCR-SSP. Standard association analysis and family transmission disequilibrium testing (TDT) were then used to compare the HLA frequencies between groups. We found a significant (P < 0.05) association of the HL4 A*01, B*08, DRB1*0301 extended haplotype with both SCLE and DLE and also significant association of DLE with the HLA A*03, B*07, DRB1*15 haplotype, with a possible protective effect in SCLE for HLA B*44 and DRB1*04 (P=0.002 and 0.001 respectively). Association was observed between PLE and cutaneous LE (P < 0.001), but not between PLE and any HLA allele. From these figures we estimate, for the general population, that the RR of developing SCLE given the presence of (a) PLE, (b) DRB1*0301 and (c) both PLE and DRB1*0301 is 3.37, 5.45 and 12.03, respectively. For DLE, equivalent RRs are 3.11, 2.15 and 6.94. In conclusion, these data imply the involvement of both PLE and HLA DRB1*0301 in the development of SCLE and DLE. They form a basis for examining the genetic architecture of photosensitivity, some aspects of which may be common to both cutaneous LE and PLE.
Lupus 2001
PMID:Polymorphic light eruption and the HLA DRB1*0301 extended haplotype are independent risk factors for cutaneous lupus erythematosus. 1148 Aug 44

The possibility of a genetic predisposition to develop the antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies and lupus anticoagulant has been addressed by family studies and by population studies. Various studies suggest a familial occurrence of anticardiolipin antibodies and lupus anticoagulant, with or without clinical evidence of APS. This familial tendency could be genetically determined. Multiple human leukocyte antigen-DR or -DQ associations with antiphospholipid antibodies have been described. Genetic studies of beta(2)-glycoprotein-1(GP1) polymorphisms have been determined and valine/leucine polymorphism could be a genetic risk for having anti-beta(2)-GP1 antibodies and APS. Compared with polymorphism of beta(2)-GP1 as a genetic risk factor for APS, beta(2)-GP1 deficiency is not associated with thrombosis and patients with APS usually have normal or somewhat elevated levels of beta(2)-GP1. The antigen specificity of antiphospholipid antibodies and the pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial.
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PMID:Antiphospholipid syndrome: genetic review. 1296 26

The antiphospholipid syndrome (APS) is an autoimmune disease characterized by the presence of antiphospholipid antibodies (aPL). Its etiology is linked to genetic predisposition, which is accounted for, at least in part, by genes of major histocompatibility complex (HLA system). The association of APS with human leukocyte antigen (HLA) alleles is a consequence of the association of aPL with HLA alleles. Some HLA alleles carry the risk to produce aPL, and this is independent of the clinical context. In fact, we find the same associations between HLA and aPL in primary APS and in APS secondary to systemic lupus erythematosus (SLE). The association of HLA-DR4, -DR7, -DRw53 and -DQB1*0302 with aCL that has been demonstrated in primary APS can also be found in SLE, a disease with a completely different pattern of HLA allele association (DR2, DR3, DRw52). In addition, the various aPL (anticardiolipin antibodies, lupus anticoagulant, anti-beta2GPI antibodies, antiphosphatidylserine/prothrombin antibodies) show similar HLA association, again independent of the clinical context (primary APS or SLE), and across various ethnic groups.
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PMID:HLA class II alleles and genetic predisposition to the antiphospholipid syndrome. 1455 Aug 81

The capacity to locate polymorphisms on a virtually complete map of the human genome coupled with the ability to accurately evaluate large numbers (by historical standards) of genetic markers has led to gene identification in complex diseases, such as systemic lupus erythematosus (SLE or lupus). While this is a phenotype with enormous clinical variation, the twin studies and the observed familial aggregation, along with the genetic effects now known, suggest a strong genetic component. Unlike type 1 diabetes, lupus genetics is not dominated by the powerful effect of a single locus. Instead, there are at least six known genetic association effects in lupus of smaller magnitude (odds ratio <2), and at least 17 robust linkages (established and arguably confirmed independently) defining potentially responsible genes that largely remain to be discovered. The more convincing genetic associations include the human leukocyte antigen region (with multiple genes), C1q, PTPN22, PDCD1, Fc receptor-like 3, FcgammaRIIA, FcgammaRIIIA, interferon regulatory factor 5, and others. How they contribute to disease risk remains yet to be clarified, beyond the obvious speculation derived from what has previously been learned about these genes. Certainly, they are expected to contribute to lupus risk independently and in combination with each other, with genes not yet identified, and with the environment. A substantial number of genes (>10) are expected to be identified to contribute to lupus or in its many subsets defined by clinical and laboratory features.
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PMID:Unraveling the genetics of systemic lupus erythematosus. 1702 21


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