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

Carriers for chronic granulomatous disease (CGD) and patients with lupus erythematosus (LE) share several characteristics: They are mostly females, they reduce nitroblue tetrazolium (NBT) poorly in their neutrophils, and, in some cases, they have similar skin lesions. We thus investigated 19 female LE patients for the presence of laboratory findings characteristic of the carrier state for CGD. None of these patients turned out to have the combined abnormality of neutrophil bactericidal activity and neutrophil NBT-reduction that is diagnostic of CGD carrier state in the X-linked form. An increased frequency of CGD carriers among female LE patients thus appear to be unlikely. Why some CGD carriers develop skin lesions typical of LE remains unexplained.
 ...
PMID:Frequency of the carrier state for X-linked chronic granulomatous disease among females with lupus erythematosus. 94 60

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.
 ...
PMID:Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. 198 66

We report the case of a young woman whose son had X-linked chronic granulomatous disease (CGD) while she was gene transmitter and presented with erythematous-squamous dermatosis predominant in unprotected regions, photosensitivity and oral ulcerations. The diagnosis of discoid lupus erythematosus, suggested by the clinical complex, was not confirmed by paraclinical examinations. CGD is an X-linked or, less often, autosomal recessive disease underlain by a selective deficiency of intraleucocytic bactericidal ability. Its clinical manifestations are repeated and severe infections involving most of the body organs. A review of the literature yielded 20 cases resembling that of our patient; all concerned mothers or sisters of children with X-linked CGD. The skin disease usually begins during childhood. The authors describe cutaneous manifestations as a photosensitive infiltrating erythema, frequently suggestive of lupus erythematosus, and oral ulcerations. At light microscopy, these skin lesions show a lymphohistiocytic infiltrate which sometimes erodes the basement membrane or remains at a distance from it. Such images suggest lupus erythematosus or, for some authors, a Jessner-Kanoff syndrome or a lichenoid infiltrate. Direct immunofluorescence was negative in all but one case, and there was usually no laboratory evidence of autoimmunity. In women who transmit the X-linked form of the disease, the bactericidal activity of granulocytes is reduced by 50 p. 100, but infection is not a major problem. The pathogenesis of these disorders is not yet fully understood. However, we would like to draw attention to the studies by Roberts et al. who demonstrated a defective degradation of bacterial DNA by circulating monocytes in patients with systemic or discoid lupus erythematosus.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:["Pseudo-lupus" eruptions in a mother carrying X chromosome-linked chronic septic granulomatosis]. 207 62

A case of chronic granulomatous disease (CGD) in a 32-year-old female with two episodes of opportunistic infections is described. At the age of 29 the patient was suspected to be a carrier of X-linked CGD on the basis of discoid lupus erythematosus-like skin lesions. No respiratory burst activity, as measured by phorbol myristate acetate stimulated superoxide production, was observed in isolated neutrophils of the patient. Membrane-rich fractions elicited no superoxide production in the presence of NADPH. The neutrophil content of cytochrome b-245 was within normal range. Family investigations revealed neither cellular abnormalities nor any history of skin diseases or opportunistic infections in first degree relatives. The parents of the patient were first cousins. On the basis of family history and the in-vitro assessment of neutrophil function, the patient is believed to have autosomal recessive CGD. The presented case illustrates that lupus erythematosus-like skin lesions are not restricted to female carriers of X-linked CGD, but may also be found in the autosomal recessive type of the disease.
 ...
PMID:Discoid lupus erythematosus-like skin lesions in a patient with autosomal recessive chronic granulomatous disease. 378 33

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.
 ...
PMID:Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. 394 41

A persistent eruption in light-exposed areas in two related carriers of X-linked chronic granulomatous disease is described. This eruption appears to be a separate entity, rather than a variant of cutaneous lupus erythematosus or Jessner's disease. Recognition may enable detection of carrier females prior to the birth of an affected son, so that genetic counselling and antenatal diagnosis can be instituted.
 ...
PMID:Chronic granulomatous disease carrier geno-dermatosis (CGDCGD). 685 Dec 17

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.
 ...
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.
 ...
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.
 ...
PMID:Lupus like lesions in a patient with X-linked chronic granulomatous disease and recombinant X chromosome. 940 82

Two Caucasian carriers for chronic granulomatous disease (CGD) developed cutaneous lupus erythematosus (LE) with clinically and morphologically characteristic appearance for chronic discoid lupus erythematosus (DLE) and lupus erythematosus tumidus (LET). Direct immunofluorescent examinations and ANA titers were positive in both young women. No systemic involvement due to the ACR criteria was evident. Their sons suffered from X-linked cytochrome-b negative CGD. The diagnosis of CGD was based on measurement of oxidative burst activity by nitroblue tetrazolium (NBT) slide test and by flow cytometry using dihydrorhodamine 123 (DHR). The absence of cytochrome b558 in neutrophilic granulocytes was confirmed photometrically and by flow cytometry using the 7D5 monoclonal antibody against cytochrome b. We report for the first time the association of the photosensitive LE subtype LET and the X-linked CGD carrier state. Tissue damage by UV radiation and a reduced antimicrobial capacity may lead to recurrent immune stimulation and may together with genetic predisposition explain the occurrence of cutaneous LE in female carriers of CGD.
 ...
PMID:Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. 1072 15


1 2 3 4 Next >>