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

Neonatal lupus erythematosus (NLE) is an antibody-mediated disorder of infants characterized by two major clinical manifestations; cutaneous lupus lesions and congenital heart block (CHB). The disease is associated with placentally transferred maternal anti-Ro/SSA and/or La/SSB antibodies. There is a tendency for the same disease expression to occur within a sibship. To reveal a possible association of class II MHC genes with maternal anti-Ro/SSA autoimmune responses and neonatal outcomes in NLE with a relatively homogeneous ethnic background, haplotype, and allele distributions were analyzed based on the PCR-RFLP results in 26 Japanese anti-Ro/SSA-positive mothers from three groups defined by neonatal outcomes. The results were as follows: (i) maternal HLA-DR5 haplotype DRB1*1101-DQA1*0501-DQB1*0301 and individual class II alleles making up this haplotype were significantly associated with neonatal cutaneous lupus but not CHB. Conversely, maternal HLA-DQB1*0602 carried on HLA-DR2 haplotypes was associated with CHB but not cutaneous NLE; (ii) HLA-DQA1 alleles with glutamine at position 34 of the first domain, which have reportedly been associated with the autoimmune responses to Ro/SSA antigens in other ethnic groups, were increased in the mothers of infants with cutaneous involvement; and (iii) there was no particular class II HLA profile that distinguished the disease manifestations in infants. These findings suggest that specific maternal MHC class II genes might correlate with specific neonatal outcomes in NLE.
 ...
PMID:Neonatal lupus erythematosus: HLA-DR and -DQ distributions are different among the groups of anti-Ro/SSA-positive mothers with different neonatal outcomes. 918 15

Neonatal lupus erythematosus is a disease primarily characterized by cardiac and/or cutaneous involvement. Liver and haematological involvement occur in a few cases and these are normally considered to be mild and transient complications. The disease is suspected to be caused by transplacental passage of maternal autoantibodies, primarily anti-Ro/SSA and anti-La/SSB, from mothers with systemic lupus erythematosus. Here we report a child with neonatal lupus erythematosus who died from severe liver and haematological disease when 2 d old. The baby had no cardiac or cutaneous involvement. The mother has had two subsequent pregnancies. In the first she had a boy without certain signs of neonatal lupus erythematosus. In the next pregnancy the child developed congenital complete heart block and cutaneous lesions.
 ...
PMID:A case of severe neonatal lupus erythematosus without cardiac or cutaneous involvement. 951 Apr 60

The aim of the study was to determine the fetal and neonatal outcomes of pregnancies conceived during the inactive phase of systemic lupus erythematosus (SLE). Fetal and neonatal outcomes in 75 pregnancies of 33 patients with SLE were analyzed. In 19 patients (57.6%) the SLE also had hematological autoimmune presentations prior to gestation, such as anemia, thrombopenia, garnulocytopenia, and antiphospholipid antibody and/or lupus anticoagulant (APA). Out of 75 pregnancies, 19 elective terminations were carried out because the disease was active or for non-medical reasons. The adverse fetal outcomes of those 56 pregnancies which occurred during the inactive phase were compared with those of the control patients. In SLE, the rates of spontaneous abortions (46.4%) and newborns with low (< 2500 gr) birthweight (36.7%) were found to increase roughly three times that of the controls and the perinatal fetal loss (16.7%) also increased significantly as compared with the control group (28.5 per thousand). APA noted at any time before pregnancy increased the low birthweight rate (75%) six fold and the perinatal loss (33.3%) more than ten fold but did not affect the rate of spontaneous abortions. Any kind of hemocytopenias without APA, noted before pregnancy did not worsen the fetal outcome in SLE. Neonatal lupus was diagnosed in 2 out of the 30 newborns. Our results suggest that among the hematologic manifestations of SLE presenting before pregnancy, APA can predict the high risks of low birthweight and perinatal fetal loss as opposed to hemocytopenias.
 ...
PMID:[Systemic lupus erythematosus and pregnancy (effect of pre-conception hematologic disorders on fetal outcome)]. 952 24

Neonatal lupus erythematosus (NLE) is a rare disorder of neonates characterized by two major clinical manifestations: congenital heart block and cutaneous lupus lesions. The disease is associated with placentally transferred maternal anti-Ro/SSA and/or La/SSB antibodies. To clarify possible class II HLA associations with maternal autoantibody responses, haplotypic and allelic distributions, along with the polymorphism of the MHC class II HLA alleles, were analyzed based on PCR-RFLP results in 25 Japanese mothers of two groups defined by precipitating autoantibody profiles. Among mothers with both anti-Ro/SSA and anti-La/SSB antibodies, but not those with anti-Ro/SSA alone, the class II haplotypes DRB1*1101-DQA1*0501-DQB1*0301 and DRB1*08032-DQA1*0103-DQB1*0601 as well as individual class II alleles DRB1*1101, DRB1*08032 and DQB1*0301 showed significantly increased frequencies compared to those in normal controls. All anti-Ro/SSA and anti-La/SSB positive mothers carried DRB1 alleles that shared the same amino acid residues at positions 14-31 and 71 of the DRB1 chain. These mothers also carried homozygous or heterozygous DQ6 and DQ3 alleles that shared the same amino acid residues at positions 27-36 and 71-77 of hypervariable regions of the DQB1 chain. Furthermore, all mothers with both anti-Ro/SSA and anti-La/SSB were homozygous for DPB1*0501. Nine of 10 anti-Ro/SSA and anti-La/SSB-positive mothers, but only 6 of 15 mothers with anti-Ro/SSA alone, had affected infants. Thus, our findings suggest that there may be immunogenetic differences among mothers according to their autoantibody profiles, and that mothers with both anti-Ro/SSA and anti-La/SSB are more likely to have infants with NLE than mothers with anti-Ro/SSA alone.
 ...
PMID:Neonatal lupus erythematosus: studies on HLA class II genes and autoantibody profiles in Japanese mothers. 954 18

Neonatal lupus erythematosus (NLE) is characterized by persistent congenital complete heart block, often without any other structural heart defects. Lupus-like dermatitis is seen transiently, more rarely hepatitis and thrombocytopenia occurs. Recent investigations have shown a close relation between NLE and maternal anti-Ro/La antibodies. These antibodies seem responsible for the destruction of the bundle of His and the AV node in the foetus. Total AV block is seen in 1:15.-22,000 of liveborn children, 70-90% of them are caused by NLE. It is difficult to identify the pregnancies at risk since at delivery most of the mothers (up to 66%) are without symptoms. If the mother has anti-Ro/La antibodies the risk for having a child with NLE is probably less than 5%. However, new investigations have shown that mothers who in addition have anti-DNA antibodies have significantly lower risk of bearing a child with NLE. In most cases foetal complete AV block is found accidentally during pregnancy. Slow foetal heart rate with the demonstration of AV dissociation should not, unless the foetus shows sign of incompensation, lead to acute delivery, but pregnancy should be monitored carefully by serial echocardiography. More than half of the children with congenital heart block need pacemaker therapy shortly after birth. The other children should be followed closely for signs of incompensation and may need pacemaker therapy later on.
 ...
PMID:[Neonatal lupus syndrome. Association with complete congenital atrioventricular block]. 959 32

Neonatal lupus erythematosus is a rare syndrome. It is characterized by a transient lupus dermatitis and congenital heart block. The immunopathogenesis of the disease has been linked to the presence of the SSA antibody. In this report, we describe a symptomatic congenital heart block in a 13-year-old male whose mother had documented systemic lupus erythematosus. We also discuss how to manage a woman with lupus erythematosus and positive antiSSA/Ro antibodies. We conclude that patients with neonatal lupus and their mothers should be observed closely before delivery and for prolonged periods for signs of active disease.
 ...
PMID:[Neonatal lupus erythematosis and atrial-ventricular block. A case report and review of the literature]. 979 21

Neonatal lupus erythematosus (NLE), characterized by two major symptoms of congenital heart block (CHB) and transient cutaneous lesions, is an antibody mediated disorder due to placentally transmitted maternal autoantibodies to Ro/SSA and/or La/SSB. We genotyped 14 mothers, 9 children with CHB, 8 with cutaneous NLE only and 5 asymptomatic siblings at HLA class I loci, by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combined with sequence-specific amplification. Mothers of children with NLE exhibited a very high polymorphism of HLA class I genes. Significant increases of HLA-B*1501 (B62) and Cw*0303 (Cw9) with absence of HLA-A1/B8 haplotype in Japanese mothers differed from the serologically defined HLA class I profiles among NLE mothers in white and North American black populations. Child/mother heterozygous HLA-A/B/C haplotype identity, which extended to HLA-class II DR/DQ loci, was observed in only one of 9 cases with CHB. No association was found between HLA class I alleles of children and the symptoms of NLE. These findings provide for the opportunity to investigate the primary genetic associations with NLE/CHB in different ethnic groups.
Lupus 1999
PMID:Neonatal lupus erythematosus: analysis of HLA class I genes in Japanese child/mother pairs. 1060 48

Neonatal lupus erythematosus is an uncommon syndrome characterized by a congenital heart block and/or cutaneous lesion. We report a male newborn with neonatal lupus erythematosus presenting with complete heart block, cutaneous lesions, and hydrops. Transplacental passage of anti-SSA/Ro and anti-SSB/La antibodies were positive. Under the regimens of steroid for maternal systemic lupus erythematosus, perinatal anticongestive agents, and postnatal ventricular pacing with inotropic therapy, the infant died at the age of two days. The prognosis of hydrops fetalis secondary to neonatal lupus with complete heart block is usually fatal.
 ...
PMID:Hydrops fetalis with complete heart block secondary to congenital lupus: report of one case. 1091 Jun 26

Neonatal lupus erythematosus (NLE) is an auto-immune disease related to systemic lupus erythematosus (SLE). Unlike SLE it is not a spontaneous syndrome but rather an acquired one. In NLE the most common disease manifestations are a transient cutaneous lesion and cardiac conduction disturbances. The cutaneous lesions and other non-cardiac manifestations of NLE are transient and disappear about six months after birth, at the time when maternal antibodies disappear from the neonatal circulation. This fact suggests that maternal antibodies may cross the placenta leading to an inflammatory reaction in the fetal tissues. NLE is the principal cause of atria-ventricular block, when it is not associated with congenital birth defects. All the clinical studies to date correlate the heart block in NLE with the presence of certain types of circulating maternal antibodies, against the Ro/SSA nuclear proteins, in the serum of the newborn. In this paper we discuss animal models that have been developed by our and others groups to study the participation of the anti-Ro/SSA antibodies in the pathogenesis of the cardiac conduction blockades that occur in NLE.
 ...
PMID:Neonatal lupus syndrome: the heart as a target of the immune system. 1093 9

Neonatal lupus is a disease characterized by one or more of the following findings: congenital heart block, cardiomyopathy, cutaneous lupus lesions, hepatobiliary disease, and thrombocytopenia. Accumulating evidence indicates that the disease is probably caused by maternal autoantibodies, particularly autoantibodies of the Ro family. While often initially asymptomatic, mothers tend to develop symptoms of connective tissue disease. This review discusses the recent advances in the understanding of neonatal lupus, its clinical features, therapy, and pathogenesis.
 ...
PMID:Neonatal lupus: clinical features, therapy, and pathogenesis. 1156 70


<< Previous 1 2 3 4 5 6 7 8 9 Next >>