{Reference Type}: Journal Article
{Author}: Matucci-Cerinic, Marco; Czirjak, Laszlo
{Year}: 2009
{Title}: Immune-endothelial-nerve interaction: an explanation for the failure of the gastrointestinal system in systemic sclerosis?
{Tag}: 0
{Star}: 0
{Journal}: ANNALS OF THE RHEUMATIC DISEASES
{Volume}: 68
{Issue}: 5
{Pages}: 609-610
{ISBN/ISSN}: 0003-4967
{Keywords}: ANTI-MUSCARINIC ANTIBODIES; PRIMARY SJOGRENS-SYNDROME; MYOELECTRIC ACTIVITY; NEURONAL ANTIBODIES; GASTRIC WALL; SCLERODERMA; AUTOANTIBODIES; MOTILITY; RECEPTOR; DISEASE
{Author Address}: Univ Florence, Dept Biomed, Div Rheumatol, AOUC,Denothe Ctr, I-50139 Florence, Italy; Univ Pecs, Dept Immunol & Rheumatol, Ctr Clin, Pecs, Hungary
{Database Provider}: Web of Science SCI
{Language}: English
{Country}: Italy; Hungary

{Reference Type}: Journal Article
{Author}: Farago, B.; Magyari, L.; Safrany, E.; Csoengei, V.; Jaromi, L.; Horvatovich, K.; Sipeky, C.; Maasz, A.; Radics, J.; Gyetvai, A.; Szekanecz, Z.; Czirjak, L.; Melegh, B.
{Year}: 2008
{Title}: Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis
{Tag}: 0
{Star}: 0
{Journal}: ANNALS OF THE RHEUMATIC DISEASES
{Volume}: 67
{Issue}: 2
{Pages}: 248-250
{ISBN/ISSN}: 0003-4967
{Keywords}: AUTOIMMUNE INFLAMMATION; DISEASE; IL-23; ASSOCIATION
{Abstract}: Objectives: Recently, an association was found between Crohn's disease and the interleukin-23 receptor (IL-23R) gene. Since the IL-23/IL-17 pathway is known to associate with other autoimmune diseases, including rheumatoid arthritis (RA) and systemic sclerosis (SSc), we hypothesised that IL-23R could be a shared susceptibility gene.
Methods: Groups of patients with rheumatoid arthritis (n = 412), systemic sclerosis (n = 224), Crohn's disease (n = 190) and healthy controls (n = 220) were genotyped for rs10889677 (exon-3' UTR C2370A), rs2201841, and rs1884444 variants; the first two have been shown to confer risk for Crohn's disease.
Results: We observed an increased prevalence of the homozygous rs10889677 AA and homozygous rs2201841 CC genotypes both in the Crohn's disease and in the RA groups as compared to the controls (12.1%, 11.9% vs 5.91%, p, < 0.05; and 13.2%, 13.1% vs 5.91%, p, 0.05), but not in the SSc patients. Logistic regression analysis revealed that bearing these alleles represent risk for the development of rheumatoid arthritis (chi(2) = 5.58, p = 0.018, OR = 2.15, 95% CI 1.14 - 4.06 for rs10889677; and chi(2) = 7.45, p = 0.006, OR = 2.40, 95% CI 1.28-4.51 for rs2201841). The rs1884444 allele, which has been previously reported as neutral for development of Crohn's disease, was also found neutral for all studied groups in the present study.
Conclusions: The data reported here provide direct evidence that some allelic variants or haplogroups of IL-23R represent independent risk factors for rheumatoid arthritis as well as Crohn's disease, but not for scleroderma.
{Author Address}: Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary; Univ Pecs, Dept Immunol & Rheumatol, Pecs, Hungary; Debrecen Univ Med, Dept Internal Med 3, Immunol Lab, H-4012 Debrecen, Hungary; Hlth Sci Ctr, Debrecen, Hungary; Debrecen Univ Med, Dept Internal Med 3, Div Rheumatol, H-4012 Debrecen, Hungary; Hlth Sci Ctr, Debrecen, Hungary; Univ Pecs, Dept Immunol & Rheumatol, Pecs, Hungary; Univ Pecs, Dept Med Genet & Child Dev, H-7624 Pecs, Hungary
{Database Provider}: Web of Science SCI
{Language}: English
{Country}: Hungary; Hungary; Hungary; Hungary; Hungary

{Reference Type}: Journal Article
{Author}: Tehlirian, C. V.; Hummers, L. K.; White, B.; Brodsky, R. A.; Wigley, F. M.
{Year}: 2008
{Title}: High-dose cyclophosphamide without stem cell rescue in scleroderma
{Tag}: 0
{Star}: 0
{Journal}: ANNALS OF THE RHEUMATIC DISEASES
{Volume}: 67
{Issue}: 6
{Pages}: 775-781
{ISBN/ISSN}: 0003-4967
{Keywords}: BONE-MARROW-TRANSPLANTATION; DIFFUSE SYSTEMIC-SCLEROSIS; PLACEBO-CONTROLLED TRIAL; AUTOIMMUNE-DISEASES; DOUBLE-BLIND; INTRAVENOUS CYCLOPHOSPHAMIDE; IMMUNOSUPPRESSIVE THERAPY; FOLLOW-UP; MORTALITY; AZATHIOPRINE
{Abstract}: Objective: To investigate the safety and tolerability of high-dose cyclophosphamide without stem cell rescue in scleroderma.
Methods: An open-label, single-site, uncontrolled study design entered patients with active diffuse cutaneous scleroderma. Patients were treated with cyclophosphamide (50 mg/kg) intravenously daily for 4 consecutive days (total 200 mg/kg) followed by granulocyte colony-stimulating factor (5 mg/kg/day). The primary clinical efficacy end point was the modified Rodnan skin score (mRSS). Secondary end points included the Health Assessment Questionnaire-Disability Index (HAQ-DI), physician global assessment (PGA) and pulmonary function tests.
Results: Six patients (4 men, 2 women) aged 19 60 years were entered into the study. One patients died early in the protocol, thus five patients had follow-up data. The percentage reduction of the mRSS in these five evaluable patients within 1 month of treatment was 60%, 55%, 41%, 31% and 0%. The patient with no decline in skin score at 1 month showed a decrease in skin score from 41 to 26 by the 3-month visit, a 37% improvement. Three patients sustained the improvement after treatment for 24, 12 and 12 months. Two patients relapsed at 12 and 6 months after treatment. The PGA and HAQ-DI scores improved in five of the six patients by 72% and 79% respectively at 3 months. The only serious adverse event was a death that occurred owing to infection after neutrophil count recovery.
Conclusions: High-dose cyclophosphamide without stem cell rescue can lead to a clinically significant improvement in skin score and measures of disease severity in patients with diffuse cutaneous scleroderma.
{Author Address}: Johns Hopkins Med Inst, Dept Med, Baltimore, MD 21205 USA; Johns Hopkins Med Inst, Dept Med, Baltimore, MD 21205 USA; MedImmune, Gaithersburg, MD USA; Johns Hopkins Med Inst, Dept Med, Baltimore, MD 21205 USA; Johns Hopkins Med Inst, Dept Med, Baltimore, MD 21205 USA
{Database Provider}: Web of Science SCI
{Language}: English
{Country}: USA; USA

{Reference Type}: Journal Article
{Author}: Vonk, M. C.; Marjanovic, Z.; van den Hoogen, F. H. J.; Zohar, S.; Schattenberg, A. V. M. B.; Fibbe, W. E.; Larghero, J.; Gluckman, E.; van Laar, J. M.; Farge, D.; Preijers, F. W. M. B.; van Dijk, A. P. J.; Bax, J. J.; Roblot, P.; van Riel, P. L. C. M.
{Year}: 2008
{Title}: Long-term follow-up results after autologous haematopoietic stem cell transplantation for severe systemic sclerosis
{Tag}: 0
{Star}: 0
{Journal}: ANNALS OF THE RHEUMATIC DISEASES
{Volume}: 67
{Issue}: 1
{Pages}: 98-104
{ISBN/ISSN}: 0003-4967
{Keywords}: DOSE IMMUNOSUPPRESSIVE THERAPY; BONE-MARROW-TRANSPLANTATION; STAGE LUNG-DISEASE; AUTOIMMUNE-DISEASES; CONTROLLED TRIAL; DOUBLE-BLIND; SCLERODERMA; MORTALITY; PLACEBO; CYCLOPHOSPHAMIDE
{Abstract}: Objective: Systemic sclerosis (SSc) is a generalised autoimmune disease, causing morbidity and a reduced life expectancy, especially in patients with rapidly progressive diffuse cutaneous SSc. As no proven treatment exists, autologous haematopoietic stem cell transplantation (HSCT) is employed as a new therapeutic strategy in patients with a poor prognosis. This study reports the effects on survival, skin and major organ function of HSCT in patients with severe diffuse cutaneous SSc.
Patients and methods: A total of 26 patients were evaluated. Peripheral blood stem cells were collected using cyclophosphamide (4 g/m(2)) and rHu G-CSF (5 to 10 mu g/kg/day) and were reinfused after positive CD34+ selection. For conditioning, cyclophosphamide 200 mg/kg was used.
Results: After a median follow-up of 5.3 (1-7.5) years, 81% (n = 21/26) of the patients demonstrated a clinically beneficial response. The Kaplan-Meier estimated survival at 5 years was 96.2% (95% Cl 89-100%) and at 7 years 84.8% (95% Cl 70.2-100%) and event-free survival, defined as survival without mortality, relapse or progression of SSc, resulting in major organ dysfunction was 64.3% (95% Cl 47.9-86%) at 5 years and 57.1% (95% Cl 39.3-83%) at 7 years.
Conclusion: This study confirms that autologous HSCT in selected patients with severe diffuse cutaneous SSc results in sustained improvement of skin thickening and stabilisation of organ function up to 7 years after transplantation.
{Author Address}: Radboud Univ Nijmegen, Med Ctr, Dept Rheumatol, NL-6500 HB Nijmegen, Netherlands; Hop Hotel Dieu, AP HP, Dept Hematol, F-75181 Paris, France; Radboud Univ Nijmegen, Med Ctr, Dept Rheumatol, NL-6500 HB Nijmegen, Netherlands; Hop St Louis, AP HP, Dept Informat Med & Biostat, Paris, France; Radboud Univ Nijmegen, Med Ctr, Dept Hematol, Nijmegen, Netherlands; Leiden Univ, Med Ctr, Dept Hematol, Leiden, Netherlands; Hop St Louis, AP HP, Cell Therapy Unit, Paris, France; Hop St Louis, AP HP, Serv Greffe Moelle, Paris, France; Leiden Univ, Med Ctr, Dept Rheumatol, Leiden, Netherlands; Univ Paris 07 Denis Diderot, INSERM, U 697 Paris, Paris, France; Hop St Louis, AP HP, Dept Internal Med, St Louis, France; Radboud Univ Nijmegen, Med Ctr, Dept Hematol, Nijmegen, Netherlands; Radboud Univ Nijmegen, Med Ctr, Heart Lung Ctr, Dept Cardiol, Nijmegen, Netherlands; Leiden Univ, Med Ctr, Dept Cardiol, Leiden, Netherlands; Hop Univ Miletrie, Dept Med Interne, Poitiers, France; Radboud Univ Nijmegen, Med Ctr, Dept Rheumatol, NL-6500 HB Nijmegen, Netherlands
{Database Provider}: Web of Science SCI
{Language}: English
{Country}: Netherlands; France; France; Netherlands; Netherlands; France; France; Netherlands; France; France; Netherlands; Netherlands; France