Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Antiphospholipid syndrome (APS) is an entity characterized by recurrent thrombotic events and may occur spontaneously or in the context of systemic lupus erythematosus (SLE). We describe an English Canadian family in whom the propositus, a woman with Graves' disease and SLE, was found to have a lupus anticoagulant and anticardiolipin antibody (aCL). A brother with deep vein thrombosis, pulmonary emboli, bilateral adrenal hemorrhage and thrombocytopenia, circulating anticoagulant and aCL had a positive antinuclear antibody and Coombs' test, but no other features of SLE. Fourteen members of 3 generations of this family underwent clinical assessments, serological testing and HLA typing. The propositus' mother had a family history of autoimmune thyroid disease and the father had aCL, but was asymptomatic. The thyroid disease and the SLE were associated with HLA-B8, DR3 haplotype. The aCL and the anticoagulant were associated with HLA-B60, DR4 haplotype. Both these haplotypes were present in the propositus. Among the other 4 carriers of the haplotype B60, DR4, 3 demonstrated significant titers of aCL. Our findings support the reported association between APS and the HLA haplotype DR4 in patients of English descent with SLE.
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PMID:A family study of the antiphospholipid syndrome associated with other autoimmune diseases. 143 7

Twelve cases of chronic urticaria with histopathologic features of lecocitoclastic allergic angitis are studied. The type of cutaneous lesion, personal and familiar atopic history and the presence of autoimmune disease are described. Light microscopy, direct immunofluorescence, anti DNA, antinuclear, antithyroid, Ro, La, Rnp and Sm antibodies, total complement levels, C3 and C4, rheumatoid factor, latex, ASTO, cryoglobulines and complete workup were investigated, taking into account natural progression and response to therapy. Two different groups are defined: 1) normocomplementemic (5 patients) and 2) hypocomplementemic (7 patients). They were all women except one. The cutaneous lesions were indistinguishable in the two groups. Only in the second group there was an associated disease (systemic lupus erythematosus, Sjogren syndrome disease, lupus-Sjogren overlap, autoimmune thyroid disease). Urticaria had been present from the onset of the disease in 4 patients, and occurred later during its course in 8 others. Five patients had thyroid disease (Hashimoto thyroiditis or Graves disease), two of them being mother and daughter. Another patient had a family history of Grave's disease and urticaria. Anti DNA antibodies were found in 7 cases, and anti Ro + La + in 3 cases. Response to treatment was variable with spontaneous cycles of worsening and remissions. One of the patients found a relationship with certain foods. Histopathologic results are related in both clinical normocomplementemic and hypocomplementemic groups. No significant differences were found between the two groups, but Ro+ and La+ patients exhibit more intense cariorexis and neutrophilic infiltrates.
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PMID:[Vasculitic urticaria: study of 12 cases]. 226 94

Thirty four sera from: 12 patients with Systemic Lupus Erythematosus (SLE), 9 with Subacute Cutaneous Lupus Erythematosus (SCLE) and 13 with Discoid Lupus Erythematosus (DLE) (disseminatus 3, localised 10) were tested for the presence of: (a) anti-thyroglobulin and anti-microsomal autoantibodies (b) anti-Sm/RNP, anti-doublestranded. DNA (anti-ds. DNA), anti-single-Stranded. DNA (anti-ss. DNA), anti-cardiolipin (anti-Cl), anti-SSA, anti-SSB, Antinuclear Antibodies (ANA). T3, T4, TSH levels were also determined. Five patients with SLE (41.6%), 4 with SCLE (44.4%), and 2 with DLE (15.3%) had thyroid autoantibodies and only three of the 41 controls (7.3%). Five patients (14.7%), especially from SLE and SCLE groups, had biochemical hypothyroidism whereas only one had hyperthyroidism. Statistical evaluation for the possible coexistence of thyroid autoantibodies with a panel of lupus characteristic autoantibodies, revealed highly significant correlations with anti-Sm/RNP, IgG (p = 0.003) and anti-ds. DNA, IgM (p = 0.012). It may be concluded, that not only SLE but also SCLE predisposes to autoimmune thyroid disease and the prevalence of the latter is related to a great extent to the subset of the LE spectrum. From these results and from the inhibition experiments, it seems that some of the specific mono- or polyclonal autoantibodies may be multiple organ reactive.
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PMID:Thyroid autoantibodies in the subsets of lupus erythematosus: correlation with other autoantibodies and thyroid function. 750 37

Autoimmune diseases are relatively common in women, and tend to occur in the childbearing years. These disorders fall broadly into two groups: (i) Multisystem diseases such as systemic lupus erythematosus (SLE) and related connective tissue disorders (CTD). This group includes the 'pre-clinical' antiphospholipid or lupus obstetric syndrome which may first manifest itself as a pregnancy disorder causing recurrent abortion, fetal death, fetal growth retardation and early onset severe pre-eclampsia. (ii) Tissue- or organ-specific disorders such as autoimmune thrombocytopaenic purpura (ATP), autoimmune thyroid disease (Graves' disease, Hashimoto's autoimmune thyroiditis, and post-postum thyroiditis), autoimmune haemolytic anaemia, and the very rare myasthenia gravis. The study of autoimmune diseases against the background of pregnancy as an experimental system of nature has provided important insights into the nature of the disease processes and the relevance or otherwise of circulating autoantibodies to pathological effects. Thus, for example, if neonatal manifestations of adult disease are causally related to the transfer of autoantibodies across the placenta, they will disappear over a time course consistent with the catabolism of IgG, providing no permanent damage is produced. Conversely, if autoantibodies are demonstrable in the neonate, in the absence of clinical effects, they may only be an epiphenomenon of the maternal disease. In addition, on occasions, disease manifestations may be seen in the baby when the mother shows none. This may occur when the mother is in remission, but still has circulating antibodies, or when she has an occult form of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Autoimmune disease and pregnancy. 784 94

We describe prevalences of prolonged activated partial thromboplastin time(APTT) and lupus anticoagulant(LAC) in autoimmune thyroid disease(AITD). Prolonged APTTs were observed in 33(6.2%) blood samples out of 532 AITD cases(327 Graves' diseases and 205 Hashimoto's thyroiditis), but in only 8(2.0%) samples out of 396 non AITD cases(213 thyroid tumors, 14 subacute thyroiditis and 169 normal thyroids). The samples with prolonged APTT showed no abnormality in coagulation factors(factor VIII, IX, XI, XII, von Willebrand factor(vWF), prekallikrein, or high molecular weight kininogen) or factor VIII, IX inhibitor. Among samples with prolonged APTT, LAC evaluated by platelet neutralization procedure(PNP) was positive in 17(51.5%) samples of AITD, and in 2(25.0%) samples of non AITD. In prolonged APTT cases, the frequency of fetal loss in patients with AITD was higher than non AITD patients. But no significant difference was obtained between thyroid autoimmune antibody and the frequency of fatal loss. These indicate unknown biological association of between AITD and LAC.
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PMID:[Prevalence of prolonged APTT and lupus anticoagulant in autoimmune thyroid disease]. 931 Dec 65

Immunoglobulin (Ig) A-associated vasculitis is commonly equated with the multiorgan systemic vasculitic syndrome Henoch-Schonlein purpura (HSP), which occurs predominantly in the pediatric age group. By natural language search of the databases of two outpatient dermatopathology practices, the authors selected for review 37 cases of IgA-associated vasculitis, 23 of which were associated with antecedent infection, most commonly of the upper respiratory tract. Criteria for a diagnosis of HSP were met in 15 cases, 13 of which were in the setting of prior infection. Lower extremity skin involvement was ubiquitous. A more widespread form of vasculitis was also seen, particularly in the setting of previous infection. Several of the patients with previous infection had underlying medical illnesses including rheumatoid arthritis, atopy, renal failure, lupus erythematosus, insulin dependent diabetes mellitus, autoimmune thyroid disease, and Wegener's granulomatosis. In those patients lacking an apparent microbial trigger, Sjogren's disease with anti-Ro antibodies and hypergammaglobulinemia, lupus erythematosus, inflammatory bowel disease, IgA paraproteinemia, bronchogenic and prostatic carcinoma, cryoglobulinemia, and lymphoma were uncovered. Regardless of whether an infectious stimulus was implicated, certain cofactors with the potential to enhance vascular injury were uncovered; these included anti-Ro antibodies, antineutrophil cytoplasmic antibody, diabetic microangiopathy, and a hyperviscosity state. In the infective group, a pustular vasculitis, defined as a neutrophilic vascular reaction in concert with epithelial pustulation, was seen in 81% of cases versus 33% in the noninfectious group (p = 0.02). The prototypic histomorphology in the noninfective group was one of a mild cell poor leukocytoclastic vasculitis; Vasculitis was of greater severity in patients with antecedent infection (p = 0.026). An infectious trigger, typically of mucosal origin, can frequently be identified in patients with cutaneous IgA-associated vasculitis, especially those with the symptom complex of HSP. The light microscopy appears to distinguish patients who have an infectious trigger from those who do not. IgA-associated vasculitis may be a clue to the presence of certain underlying disorders where there is immune dysregulation or enhanced susceptibility to immune complex entrapment.
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PMID:A clinical and histologic study of 37 cases of immunoglobulin A-associated vasculitis. 1038 44

A patient with systemic lupus erythematosus (SLE) is described who had associated autoimmune thyroiditis with subclinical hypothyroidism and idiopathic Addison's disease. The presence of autoimmune thyroid disease and Addison's disease could classify her as having polyglandular autoimmune syndrome (PGAS) type II, which is the commonest of the three types of this syndrome. However, the additional presence of SLE in PGAS type II has not been described earlier. This patient appears to be the first such case.
Lupus 2001
PMID:Systemic lupus erythematosus with polyglandular autoimmune syndrome type II: report of an unusual case. 1143 81

An association between celiac disease and other autoimmune disorders--such as insulin-dependent diabetes, Addison's disease, systemic lupus erythematous, rheumatoid arthritis, alopecia areata, and autoimmune endocrine diseases--has been described. The aim of this study was to evaluate the prevalence of celiac disease in 100 patients with autoimmune thyroid disease. Moreover, the monitoring of patients with concomitant celiac and autoimmune thyroid diseases, after a gluten-free diet or a gluten-containing diet, can give important insights into the effect of dietary habits in thyroid autoantibodies modulation. In our study, the prevalence of celiac disease in patients with autoimmune thyroid disease was 2%. In these two celiac patients, the serologic markers became undetectable 6 months after beginning a gluten-free diet. However, thyroid autoantibodies did not positively correlate with dietary habits.
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PMID:Thyroid-related autoantibodies and celiac disease: a role for a gluten-free diet? 1219 1

Generalized vitiligo is an autoimmune disorder in which acquired white patches of skin and overlying hair result from autoimmune loss of melanocytes from involved areas. Although usually sporadic, family clustering of vitiligo may occur, in a non-Mendelian pattern typical of multifactorial, polygenic inheritance. Sporadic vitiligo is associated with autoimmune thyroid disease, pernicious anemia, Addison's disease, and lupus; these same disorders occur at increased frequency in patients' first-degree relatives. Here, we studied 133 'multiplex' generalized vitiligo families, with multiple affected family members. The age of onset of vitiligo is earlier in these 'multiplex' families than in patients with sporadic vitiligo. Affected members of the multiplex vitiligo families have elevated frequencies of autoimmune thyroid disease, rheumatoid arthritis, psoriasis, adult-onset insulin-dependent diabetes mellitus, pernicious anemia, and Addison's disease. Probands' unaffected siblings have elevated frequencies of most of these same autoimmune diseases, particularly if the proband had non-vitiligo autoimmune disease. Familial generalized vitiligo is thus characterized by earlier disease onset and a broader repertoire of associated autoimmune diseases than sporadic vitiligo. This mostly likely reflects a greater inherited genetic component of autoimmune susceptibility in these families. These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo.
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PMID:Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. 1602 22

Autoimmune thyroid disease (AITD) is the most common organ specific autoimmune disorder usually resulting in dysfunction (hyperfunction, hypofunction or both) of the thyroid gland. The syndromes comprising autoimmune thyroid disease are many intimately related illnesses: Graves' disease with goitre, hyperthyroidism and, in many patients, associated ophthalmopathy, Hashimoto's thyroiditis with goitre and euthyroidism or hypothyroidism but also thyroid dysfunction occurring independently of pregnancy and in 5-6% of postpartum women and thyroiditides induced by different drugs and other environmental influences. The immunological mechanisms involved in these diseases are closely related, while the phenotypes probably differ because of the specific type of immunological response that occurs. The syndromes are connected together by their similar thyroid pathology, similar immune mechanisms, co-occurrence in family groups, and transition from one clinical picture to another within the same individual over time. In some patients, other organ specific and nonorgan specific autoimmune syndromes are associated with autoimmune thyroid disease, including pernicious anemia, vitiligo, myasthenia gravis, primary adrenal autoimmune disease, celiac disease, rheumatoid arthritis or lupus. Thyroid peroxydase, TPO, the primary enzyme involved in thyroid hormonogenesis, was initially identified in 1959 as the 'thyroid microsomal antigenn. It is uncertain whether TPO autoantibodies or TPO-specific T cells are the primary cause of thyroid inflammation, which can lead, in some individuals, to thyroid failure and hypothyroidism. TPOAbs are the hallmark of AITB and are present in almost all patients with Hashimoto's thyroiditis, in two-thirds of patients with postpartum thyroiditis and also in 75% of patients with Graves' hyperthyroidism. The antibodies are mainly produced by lymphocytic infiltrate in the thyroid gland and only to a small extent by regional lymph nodes or the bone marrow. Unlike antibodies against thyroglobulin (Tg), TPO antibodies are capable of inducing antibody-dependent cell-mediated cytotoxicity. Antibodies to TSH-R mimic the function of TSH, and cause disease by binding to the TSH-R and stimulating (or inhibiting) thyroid cells. The TSHR, a member of the G protein-coupled receptor family with seven membrane-spanning segments. Patients with autoimmune thyroid disease may have both stimulating and blocking antibodies in their sera, the clinical picture being the result of the relative potency of each species; blocking antibodies seem more common in Graves' patients with ophthalmopathy compared to those without this complication. The major T cell epitopes are heterogeneous and T cell reactivity against certain TSH-R epitopes has been present in high proportion in normal subjects. More diversified response to TSH-R, with heterogeneity of epitope recognition by TSAb, is predictive of likely remission after antithyroid drug treatment for Graves' disease.
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PMID:[Diagnosis of autoimmune thyroid disease]. 1640 53


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