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  • 1
    Keywords: DISEASE ; RISK ; PROTEIN ; POLYMORPHISMS ; PATHOGENESIS ; CLINICAL-FEATURES ; GENETIC SUSCEPTIBILITY ; MANIFESTATIONS ; AICARDI-GOUTIERES SYNDROME ; TRIM39
    Abstract: Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disease of the skin with typical clinical manifestations. Here, we genotyped 906 600 single nucleotide polymorphisms (SNPs) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNPs in 219 case subjects and 262 controls from Finland. Association was particularly pronounced at 4 loci, all with genomewide significance (P 〈 5 x 10(-8) ): rs2187668 (PGWAS = 1.4 x 10(-12) ), rs9267531 (PGWAS = 4.7 x 10(-10) ), rs4410767 (PGWAS = 1.0 x 10(-9) ) and rs3094084 (PGWAS = 1.1 x 10(-9) ). All mentioned SNPs are located within the major histocompatibility complex (MHC) region of chromosome 6 and near genes of known immune functions or associations with other autoimmune diseases such as HLA-DQ alpha chain 1 (HLA-DQA1), MICA, MICB, MSH5, TRIM39 and RPP21. For example, TRIM39/RPP21 read through transcript is a known mediator of the interferon response, a central pathway involved in the pathogenesis of CLE and systemic lupus erythematosus (SLE). Taken together, this genomewide analysis of disease association of CLE identified candidate genes and genomic regions that may contribute to pathogenic mechanisms in CLE via dysregulated antigen presentation (HLA-DQA1), apoptosis regulation, RNA processing and interferon response (MICA, MICB, MSH5, TRIM39 and RPP21).
    Type of Publication: Journal article published
    PubMed ID: 25827949
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  • 2
  • 3
    Keywords: APOPTOSIS ; CELLS ; EXPRESSION ; GROWTH ; tumor ; TOOL ; DISEASE ; GENE ; HYBRIDIZATION ; DIFFERENTIATION ; PATIENT ; SKIN ; T-CELL ; chromosome ; DELETION ; IN-SITU ; LESIONS ; PROGRESSION ; LYMPHOMA ; MUTATION ; ABERRATIONS ; DELETIONS ; LYMPHOCYTES ; FISH ; REGION ; CAENORHABDITIS-ELEGANS ; PHENOTYPE ; ABNORMALITIES ; INTERLEUKIN-2 ; FINLAND ; MYCOSIS-FUNGOIDES ; in situ hybridization ; TUMOR-SUPPRESSOR ; SEZARY-SYNDROME ; allergy ; MISSENSE MUTATION ; SUPPRESSOR ; tumor suppressor gene ; Jurkat cells ; LYMPHOMAS ; CHROMOSOMAL TRANSLOCATIONS ; DISEASE PROGRESSION ; MAMMALIAN HOMOLOG
    Abstract: Multicolor. fluorescent in situ hybridization (FISH) was used to identify acquired chromosomal aberrations in 12 patients with mycosis fungoides or Sezary syndrome, the most common forms of primary cutaneous T-cell lymphoma (CTCL). The most frequently affected chromosome was 12, which showed clonal deletions or translocations with a break point in 12q21 or 12q22 in five of seven consecutive Sezary syndrome patients and a clonal monosomy in the sixth patient. The break point of a balanced translocation t(12;18)(q21;q21.2), mapped in the minimal common region of two deletions, fine mapped to 12q2. By locus-specific FISH, the translocation disrupted one gene, NAV3 (POMFIL1), a human homologue of unc-53 in Caenorhabditis elegans. A missense mutation in the remaining NAV3 allele was found in one of six cases with a deletion or translocation. With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sezary syndrome. Preliminary functional studies with lentiviral small interfering RNA-based NAV3 silencing in Jurkat cells and in primary lymphocytes showed enhanced interleukin 2 expression (but not CD25 expression). Thus, NAV3 may contribute to the growth, differentiation, and apoptosis of CTCL cells as well as to the skewing from Th1-type to Th2-type phenotype during disease progression. NAV3, a novel putative haploinsufficient tumor suppressor gene, is disrupted in most cases of the commonest types of CTCL and may thus provide a new diagnostic tool
    Type of Publication: Journal article published
    PubMed ID: 16166283
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  • 4
    ISSN: 0890-8508
    Keywords: affinity-capture ; biotin-avidin ; liquid hybridization ; polymerase chain reaction (PCR) ; viral diagnosis
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-8798
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Information concerning the expression kinetics and subcellular localization of HIV regulatory proteins is of importance in understanding the viral pathogenesis and may be relevant for drug and vaccine development, as well. We have used combined immunocytochemistry and in situ hybridization to study firstly, the order of expression of regulatory HIV-1 proteins Nef, Rev and Tat in relation to non-spliced and spliced mRNA expression and secondly, the subcellular localization of these proteins in acutely and chronically infected human T-cell lines. We used monoclonal antibodies against HIV-1 Nef, Tat, Rev and gp160, and RNA probes reacting either with all mRNAs (nef) or only with the full-length mRNA (gag-pol). In acutely infected MT-4 and H9 cells, four distinct phases of infection could be defined. In the first phase lasting from 0 to 6 h post-infection, only incoming virus could be demonstrated by gp160 immunocytochemistry. During the second, regulatory phase (6–9 h), abundant cytoplasmic expression of Nef, Rev and Tat proteins and a positive in situ RNA hybridization with the nef probe was seen, while the in situ hybridization with full-length mRNA probe and immunohistochemistry for gp160 were still negative. The productive phase (12–48 h) was characterized by abundant expression of full-length mRNA and gp160, and by the nuclear localization of Nef and Tat proteins. In contrast, an antibody that recognized the RRE binding region of the Rev protein localized Rev in the cytoplasm both during the regulatory and productive phase. During the fourth, cytopathic phase, the expression of mRNA or viral proteins decreased and the regulatory proteins studied were again mainly localized in the cytoplasm. Based on the results, we speculate that HIV Nef may function as a nuclear factor, and that Tat is possibly bound by cellular proteins before its transport to the nucleus.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-069X
    Keywords: Mycosis fungoides ; Cutaneous T-cell lymphoma ; HTLV-I ; HIV-1 ; Antibodies ; Western blot
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have studied the relationship of antibodies reacting with human retroviral core proteins to the disease outcome in Finnish mycosis fungoides (MF) patients in a prospective manner. Antibodies recognizing human T-cell leukaemia/lymphoma virus I (HTLV-I) or human immunodeficiency virus type 1 (HIV-1) core proteins were found in 12 of 14 MF patients as shown by the Western blot method. The antibody reactivities showed three patterns: three patients had antibodies cross-reacting with the gag-encoded core proteins of both HTLV-I and HIV-1; seven patients showed antibodies reacting with HTLV-I core proteins only; and the sera of two patients reacted with HIV p24 core protein only. When following the clinical course of these patients, we found that the three patients with antibodies cross-reacting with both viruses had the most fulminant clinical course, and the overall duration of MF was, on average, 4 years less than in the rest of the patients. None of the patients, however, became leukaemic, or showed any other features suggestive of acute T-cell leukaemia/lymphoma (ATL). Two patients, who did not show anti-retroviral antibodies during the follow-up, had a stable disease with plaque-type skin lesions. Histological or immunohistological typing of the skin infiltrates did not correlate with the disease outcome or the above antibody patterns. Our results thus raise the possibility that an unknown retrovirus, immunologically related to the known human retroviruses, may be aetiologically linked to MF.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Patients with cutaneous T-cell lymphoma (CTCL) show chromosomal aberrations in skin and blood lymphocytes.Objectives  To evaluate the significance of peripheral blood clonal or non-clonal chromosomal abnormalities in comparison with the clinical course of cutaneous T-cell lymphoma patients.Patients/methods  Five patients with large-plaque parapsoriasis (LPP) or with follicular mucinosis, eight with mycosis fungoides and two with Sézary syndrome were followed for an average of 54 months. G-banding and enzyme-detected in situ hybridization (EDISH) were used to identify aberrations in chromosomes 1, 6, 8, 9, 11, 13/21, 15 or 17, that had previously showed frequent aberrations.Results  The aberration rates of all chromosomes studied differed between patients with active disease and healthy or photochemotherapy-treated controls by EDISH or G-banding (P 〈 0·01 to P 〈 0·05). Patients in complete remission differed from healthy controls for aberrations of chromosomes 1, 6 and 11, and from patients with active, progressing disease for chromosomes 1, 6, 8, 11 and 17 (P 〈 0·01 to P 〈 0·05, EDISH or G-banding). All 11 samples representing active, progressing disease showed elevated levels of chromosome 8 aberrations in EDISH. The change in chromosomal aberration rate and clinical condition between two consecutive samples agreed for chromosomes 1, 8, 9 and 15 (G-banding) and for chromosome 17 (G-banding and EDISH; κ 〉 0·5–0·6). Six of seven patients (five CTCL, one LPP patient) with clonal chromosomal aberrations by G-banding showed continuously active disease and four of them, but none of the other patients, died within 30 months of the detection of the clone.Conclusions  The rate of chromosomal aberrations associates with the activity of CTCL, and has prognostic significance. Aberrations of chromosomes 1, 6 and 11, although increasing with activity of the disease, seem to be a hallmark of existing disease, detectable even in remission. Aberrations of chromosomes 8 and 17 especially associate with active or progressive disease.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 136 (1997), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Erythema elevatum diutinum (EED) has been described in association with several immunological or infectious diseases. We describe a female patient who presented with clinically and histologically typical EED in whom previously undiagnosed coetiac disease was found.Appearance of EED lesions was preceded by widespread joint pains. In extensive laboratory tests, the only abnormal findings were an elevated erythrocyte sedimentation rate (ESR) and decreased haemoglobin and folic acid levels. Later. IgA and IgG type antireticulin and antigliadin antibodies were detected. Serum total IgA was elevated but no paraproteinaemia was found. In lesional skin, granular deposits of IgA and C3 were seen at the dermo-epidermal junction. A duodenal biopsy revealed total villous atrophy. Dapsone treatment was partly effective but complete healing of the EED lesions was achieved only after the introduction of a strict gluten-free diet. The patient has now remained symptom-free on the diet for 1.5 years.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: T Lymphocytes and mononuclear phagocytes were measured quantitatively with the histochemical acid α-naphthyl acetate esterase (ANAE) method from paraffin sections of skin affected by systemic and discoid lupus erythematosus and by Jessner's lymphocytic infiltrate. The composition of the patchy cutaneous mononuclear cell infiltrates was similar in these three disorders.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Photosensitivity, one of the presenting symptoms in lupus erythematosus (LE), is still poorly defined and varying prevalence figures have been reported. The possibility of a coexisting photodermatosis, especially polymorphous light eruption (PLE), has often not been taken into account. We report the results of ultraviolet A (UVA) and B (UVB) photoprovocation tests in 67 clinically photosensitive patients who had confirmed discoid LE (DLE), systemic LE (SLE) or subacute cutaneous LE (SCLE). The results are compared with a detailed history of photosensitivity and with clinical and serological findings. A pathological photoprovocation reaction, graded as weak, moderate or strong, was induced with either UVA or UVB in 69% of patients with LE, in 100% of those with SCLE, in 70% of those with SLE and in 64% of those with DLE, but in none of 14 controls. Only 16% of the pathological reactions were strong and long-lasting, resembling LE lesions, while 48% were moderate or weak and transient, clinically like PLE. Fifty-three per cent of the provocation reactions which were biopsied showed a PLE-like histology or a non-specific inflammatory reaction, and most of them were clinically moderate or weak reactions of short duration. In the remaining, mostly clinically strong or long-lasting reactions, the histology was consistent with LE. A history of sunlight sensitivity did not predict a pathological photoprovocation result but a positive association between the presence of SSA/Ro or SSB/La antibodies and a pathological photoprovocation reaction was found. We have shown that PLE coexists with LE and that both PLE- and LE-like lesions can be induced with UV radiation in LE patients.
    Type of Medium: Electronic Resource
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