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)

A 60-year-old part Aboriginal woman was observed to develop severe neutropenia and a large granular lymphocyte (LGL) proliferation five years after the diagnosis of systemic lupus erythematosus (SLE). Monoclonality of the CD3+, CD4-, CD8+ LGL population was confirmed using the novel approach of X-linked restriction fragment length polymorphism (RFLP) analysis. Indeterminate HTLV-I serology was present. The patient responded to steroid therapy. LGL proliferation in the setting of SLE and the use of X-linked RFLP analysis to define LGL clonality have not previously been reported.
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PMID:Monoclonal large granular lymphocyte proliferation in SLE with HTLV-I seroreactivity. 158 Aug 66

We describe a patient with X-linked chronic granulomatous disease (CGD) who developed systemic lupus erythematosus, which was characterized by photosensitivity, malar rash, glomerulonephritis, leukopenia, hypocomplementemia, antinuclear antibodies, and anti-double-stranded DNA antibodies, at age 3. The patient's mother is an asymptomatic carrier of CGD, and her other son (the patient's half-brother) also has CGD. Neither the mother nor the brother has clinical or serologic evidence of systemic lupus erythematosus. Previous cases of discoid lupus-like skin lesions have been reported both in carriers and in patients with CGD. Our patient represents the first reported case of an individual with convincing clinical, serologic, and pathologic evidence of systemic lupus erythematosus. The association between defective host defense mechanisms and autoimmune phenomena has been described previously in patients with Job's syndrome and in patients with B cell and T cell deficiency disorders, including the acquired immunodeficiency syndrome. The relationship between the known leukocyte defects in CGD and the pathogenesis of a lupus-like illness is unclear.
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PMID:Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. 198 66

"Histiocytosis" is the term currently used to describe the group of diseases characterized by activation and proliferation of monocytic-mononuclear cells. Some of these are "reactive" to well-known causes, mycobacteriae, viral and parasitic infections, or chronic storage of minerals. Wider and more intriguing is the group of histiocytosis secondary to unknown causes: sinus histiocytosis with massive lymphadenopathy; histiocytosis in the course of systemic illnesses such as rheumatoid arthritis, SLE, Crohn disease, ulcerative colity, sarcoidosis, Weber-Christian disease, Wegener granulomatosis. Histiocitytosis X is the most frequent type of histiocytosis. Hematophagocytosis is a paraphysiologic phenomenon; however, when enormously increased it is characteristic of both the virus-associated hemophagocytic syndrome and Farquhar syndrome. In some cases of severe combined immunodeficiencies (SCID) histiocytic proliferation has been observed. Finally, during the past decade the morphologic approach has led to definition of the X-linked lymphoproliferative disease (XLP) and its erroneous classification as histiocytosis. These conditions are reviewed and some clinical cases are reported.
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PMID:[Recent advances in histiocytosis]. 387 52

Chronic granulomatous disease (CGD) is characterized by a bactericidal defect involving the oxidative metabolism of polymorphonuclear leukocytes (PML) and is most often transmitted as an X-linked trait. The cutaneous features of this disorder include infections and lupus-like rashes. These have been described in female carriers as well as in males with the disease. Two cases of siblings presenting an autosomal form of CGD syndrome, with lupus-like cutaneous manifestations, are reported here.
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PMID:Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. 394 41

Resident peritoneal macrophages from systemic lupus erythematosus (SLE)-prone strains, NZB, (NZB X NZW)F1 and MRL/MpJ-lpr/lpr mice, exhibited very low binding and phagocytosis of opsonized 51Cr-labeled sheep erythrocytes (EA) compared with cells from normal mice. Male BXSB mice, which also develop SLE, were not clearly defective in phagocytosis and binding of EA compared with C57B1/6J, the lowest of the "normal" mice tested, but were less effective than their normal female BXSB counterparts. The extent of the defect depended on the age of the animals tested. Young NZB/N mice showed hyperactive binding and phagocytosis and became defective about the time of disease onset. Even young (NZB X NZW)F1 and MRL/MpJ-lpr/lpr mice were defective and worsened with age. Increasing numbers of resident peritoneal macrophages were recovered from the autoimmune mice as they aged. Near normal binding and phagocytosis of EA could be effected by stimulation in vivo by injection of killed Corynebacterium parvum. Resident peritoneal macrophages from congeneic xid (X-linked immune deficiency gene) bearing NZB and (NZB X NZW)F1 mice showed normal reactivity. Binding and phagocytosis of EA was Fc mediated and was inhibited by pretreatment with large doses of heat-aggregated human gamma-globulin. Defective macrophage Fc receptor binding or turnover may play an important role in the observed manifestations of autoimmune disease in murine SLE.
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PMID:Studies of peritoneal macrophage function in mice with systemic lupus erythematosus: depressed phagocytosis of opsonized sheep erythrocytes in vitro. 619 5

Chronic granulomatous disease (CGD) is an uncommon disorder affecting neutrophil function, and is characterized by recurrent and severe pyogenic infections. Associated autoimmune disorders, in particular lupus-like disorders, are found in carriers of X-linked CGD and in patients with both the X-linked and the autosomal recessive (AR) forms of the disease. We describe a girl with the AR form of CGD and with rheumatoid factor-positive polyarthritis resembling juvenile rheumatoid arthritis. This association has been reported previously only in a single case report of a patient with probable CGD. The present report further substantiates the association between autoimmune phenomena and CGD.
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PMID:Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease. 818 6

There is a paradoxical relationship between immunodeficiency diseases and autoimmunity. While not all individuals with immunodeficiency develop autoimmunity, nor are all individuals with autoimmunity immunodeficient, defects within certain components of the immune system carry a high risk for the development of autoimmune disease. Inherited deficiencies of the complement system have a high incidence of systemic lupus erythematosus (SLE), glomerulonephritis, and vasculitis. Carrier mothers of children with chronic granulomatous disease, an X-linked defect of phagocytosis, often develop discoid lupus. Several antibody deficiencies are associated with autoimmune disease. Autoimmune cytopenias are commonly observed in individuals with selective IgA deficiency and common variable immune deficiency. Polyarticular arthritis can be seen in children with X-linked agammaglobulinemia. Combined cellular and antibody deficiencies, such as Wiskott-Aldrich syndrome, carry an increased risk for juvenile rheumatoid arthritis and autoimmune hemolytic anemia. Several hypothetical mechanisms have been proposed to explain the associations between autoimmunity and immunodeficiency. Immunologic defects may result in a failure to exclude microbial antigens, resulting in chronic immunologic activation and autoimmune symptoms. There may be shared genetic factors, such as common HLA alleles, which predispose an individual to both autoimmunity and immunodeficiency. Defects within one component of the immune system may alter the way a pathogen induces an immune response and lead to an inflammatory response directed at self-antigens. An understanding of the immunologic defects that contribute to the development of autoimmunity will provide an insight into the pathogenesis of the autoimmune process.
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PMID:The association between immunodeficiency and the development of autoimmune disease. 893 26

Lupus-like lesions in X-linked chronic granulomatous disease (X-CGD) are rare. To our knowledge, only 2 cases have previously been published. We report a 2.5-year-old boy with X-CGD whose clinical findings were consistent with cutaneous lupus erythematosus. Conventional histopathology showed epidermal atrophy, parakeratosis, follicular plugging and areas of hydropic degeneration. The most striking feature was a neutrophilic interstitial infiltrate with leukocytoclasia in the upper dermis. The X chromosome of our patient--studied with 2 endonucleases (PstI and TaqI) and 5 probes (P99.6, pERT 87.8, pERT87.15, XJ1.1 and 754)--was recombinant, but we believe that this is an incidental finding, not related to the disease. Neutrophilic infiltrate and leukocytoclasia could be characteristic histopathologic findings of lupus-like lesions in these patients.
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PMID:Lupus like lesions in a patient with X-linked chronic granulomatous disease and recombinant X chromosome. 940 82

Rheumatoid arthritis (RA) is an autoimmune/inflammatory disorder with a complex genetic component. We report the first major genomewide screen of multiplex families with RA gathered in the United States. The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 families containing 301 affected sibling pairs with RA. A genome screen for allele sharing was performed, using 379 microsatellite markers. A nonparametric analysis using SIBPAL confirmed linkage of the HLA locus to RA (P < .00005), with lambdaHLA = 1.79. However, the analysis also revealed a number of non-HLA loci on chromosomes 1 (D1S235), 4 (D4S1647), 12 (D12S373), 16 (D16S403), and 17 (D17S1301), with evidence for linkage at a significance level of P<.005. Analysis of X-linked markers using the MLOD method from ASPEX also suggests linkage to the telomeric marker DXS6807. Stratifying the families into white or seropositive subgroups revealed some additional markers that showed improvement in significance over the full data set. Several of the regions that showed evidence for nominal significance (P < .05) in our data set had previously been implicated in RA (D16S516 and D17S1301) or in other diseases of an autoimmune nature, including systemic lupus erythematosus (D1S235), inflammatory bowel disease (D4S1647, D5S1462, and D16S516), multiple sclerosis (D12S1052), and ankylosing spondylitis (D16S516). Therefore, genes in the HLA complex play a major role in RA susceptibility, but several other regions also contribute significantly to overall genetic risk.
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PMID:A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 1125 50

Bruton's XLA and DiGeorge syndrome patients show that two basic immune systems are distinct from each other in humans - thymus-dependent cell-mediated immunodeficiencies vs. antibody-based immunodeficiencies. The appendix-sacculus lymphoid organ of rabbits, like the bursa of Fabricius, represents a central lymphoid organ. Chronic granulomatous disease of childhood (CGD) revealed that phagocytosis killing of catalase-positive microorganisms employ oxidative burst. Bone marrow transplantation (BMT) proved life saving in severe combined immunodeficiency (SCID). The first BMT cured XSCID and the second BMT cured a complicating aplastic anemia launching BMT as a treatment of many diseases. Now 75 fatal diseases have been cured by myeloablative BMT. BMT also cured experimental autoimmune diseases. BMT alone did not cure lupus with polyarthritis in MRL/lpr mice or polyarthritis in NZB/KN mice, but BMT plus bone (stromal cell) transplants cured these diseases. Autoimmune diseases and lethal glomerulonephritis were prevented or cured in BXSB mice by mixed allogeneic plus syngeneic BMT. X-linked Hyper IgM syndrome (XHIM) was also cured by BMT from a 2-year-old MHC-matched sibling donor. Nonmyeloablative BMT plus mesenchymal stem cells (stromal cells) was effective treatment for a form of collagen-vascular disease and also a lethal form of hypophosphatasia. Mannan-binding lectin, an opsonin that activates the complement system when mutated and at low levels in blood, opens a door to frequent infections throughout childhood and adult life. This new immunodeficiency is based on genetic mutations that involve a native defense system.
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PMID:Cellular immunology in a historical perspective. 1219 Sep 28


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