Abstract Number: 1228 • 2014 ACR/ARHP Annual Meeting
Involvement of the IFN-Õ Pathway in a Patient with Candle Syndrome Carrying a Novel Variant of PSMB8 Gene
Background/Purpose: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease. We describe clinical phenotype and cytokine profile…Abstract Number: 1227 • 2014 ACR/ARHP Annual Meeting
Cryopyrinopathy with a Myeloid-Specific NLRP3 Mutation
Background/Purpose To identify the cause of disease in an adult patient who presented with recurrent fevers and urticaria which responded to IL-1 inhibition with anakinra.…Abstract Number: 1226 • 2014 ACR/ARHP Annual Meeting
Studying Patients with Autoinflammatory Diseases: The Past, Present, and a Perspective for the Future
Background/Purpose: Autoinflammatory diseases (AIDs) are uncommon disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Because of their rarity, finding large numbers of patients…Abstract Number: 1225 • 2014 ACR/ARHP Annual Meeting
Clinical Presentation and Cytokine Production Abnormalities in a Cohort of Patients Carrying NLRP12 GENE Variants
Background/Purpose: The NLRP12 related autoinflammatory disorder (NLRP12-RD) is a rare autosomal dominant disease,caused by mutations in the NLRP12 gene.Clinical manifestations are extremely heterogeneous.We describe clinical…Abstract Number: 1224 • 2014 ACR/ARHP Annual Meeting
Pegloticase for Tophus Debulking: Comparison of Dual Energy Computerized Tomography (DECT), Musculoskeletal Ultrasound (MSK-US) and Topographic Caliper Measurement for Assessing Debulking Rate
Background/Purpose: Pegloticase is approved for lowering serum urate (sUA) in chronic refractory tophaceous gout (CRTG), but the rate of tophus resolution is not well defined,…Abstract Number: 1223 • 2014 ACR/ARHP Annual Meeting
Enhancement of Proinflammatory Cytokine Production By Uric Acid in Human Cells Via Down Regulation of IL-1Ra
Background/Purpose Gout is an autoinflammatory disease characterized by the deposition of monosodium urate (MSU) crystals in the joints of hyperuricaemic patients and subsequent attacks of…Abstract Number: 1222 • 2014 ACR/ARHP Annual Meeting
Suppressive Effect of Butyrate on Monosodium Urate (MSU) Crystal-Induced IL-1beta Production Is Mediated Via Inhibition of Class I Histone Deacetylases
Background/Purpose Gouty arthritis is triggered by endogenously formed monosodium urate (MSU) crystals. MSU crystals alone are unable to induce cytokine production and therefore a second…Abstract Number: 1221 • 2014 ACR/ARHP Annual Meeting
Serum Uric Acid As an Independent Risk Factor on Progression of Chronic Kidney Disease in Gout Patients with Uric Acid Lowering Agent
Background/Purpose Hyperuricemia is particularly common in patients with chronic kidney disease (CKD). Its role, however, as a risk factor for renal outcomes of CKD is…Abstract Number: 1240 • 2014 ACR/ARHP Annual Meeting
Efficacy of Anakinra in Refractory Adult-Onset Still´s Disease: Multicenter Study of 41 Patients
Background/Purpose: Adult-onset Still's disease (AOSD) is frequently refractory to standard therapy. Anakinra (ANK), an interleukin-1 (IL-1) receptor antagonist, has demonstrated efficacy in single cases or…Abstract Number: 1239 • 2014 ACR/ARHP Annual Meeting
Is Lymphocytic Sialadenitis IgG4-Related?
Background/Purpose: To assess the prevalence of IgG4-related disease among patients with lymphocytic sialadenitis on labial salivary gland biopsy. Methods: All labial salivary gland biopsies (LSGB)…Abstract Number: 1238 • 2014 ACR/ARHP Annual Meeting
Proportion of Peripheral Plasmacytoid Dendritic Cells and Plasmablasts Reflects Disease Activity in IgG4-related Disease
Background/Purpose Immunoglobulin (Ig) G4-related disease (IgG4-RD) is a recently recognized fibro-inflammatory disease with multi-organ system involvement. Affected patients frequently have a history of bronchial asthma and allergic rhinitis. The reported pathogenesis of IgG4-RD describes the clear involvement of excessive Th2 cells and regulatory immune reaction in addition to plasma cells 1). However, peripheral immune cell phenotype, which reflects disease status, has not been comprehensively evaluated. Our aim was to definitively determine peripheral blood cell abnormalities and their correlation with disease activity in patients with IgG4-RD.Methods Peripheral blood samples were obtained from active untreated IgG4-RD patients (n=11) and healthy controls (n=16). Comprehensive immunophenotyping assay with information on activation status was done by multi-color flow cytometry, and the proportion of peripheral blood mononuclear cells (PBMCs), including T cells (naïve/memory, Th1/2/17, Treg, and Tfh), B cells (naïve/memory, plasmablast, Breg), monocytes (classical, intermediate, non-classical) and dendritic cells (myeloid, plasmacytoid), and their activity status were precisely defined. Disease activity was measured using the IgG4-RD responder index (RI). Statistical analysis was done using the Mann-Whitney U test and Spearman rank correlation coefficient test.Results The proportion of plasmablasts (CD19+CD20-CD27+CD38+), memory Th2 cells (CD3+CD4+CXCR3-CCR6-CD45RA-), Tregs (CD3+CD4+CD25+CD127low), Tfh (CD3+CD4+CXCR5+), and mDCs (CD3-CD19-CD14-HLA-DR+CD1c+CD303-) in peripheral blood was significantly increased in IgG4-RD patients compared with HC, whereas the proportion of pDCs (CD3-CD19-CD14-HLA-DR+CD1c-CD303+）was significantly decreased. Interestingly, the proportion of pDCs in total DCs was negatively correlated with IgG4-RD RI (r=-0.778, p=0.005) while the proportion of plasmablasts in CD19+cells was positively correlated with RI (r=0.701, p=0.016). Further, the increased proportion of plasmablasts was positively correlated with serum IgG4 level (r=0.718, p=0.013) while the decreased proportion of pDCs tended to be negatively correlated with the number of affected organs (r=-0.518, p=0.061). Conclusion Our comprehensive analysis identified distinct proportional changes in PBMCs in IgG4-RD. In particular, the decrease in pDCs and increase in plasmablasts were strongly linked with disease activity. These combined measurements are expected to be clinically useful surrogate cell markers. This newly identified decrease in circulating pDCs may be involved in the pathogenesis in IgG4-RD via the recently described role in the enhancement of Th2 response 2).References: 1) Stone JH et.al. N Engl J Med 2012;366:539-51 2) Maazi H et.al. Allergy 2013;68:695-701Abstract Number: 1237 • 2014 ACR/ARHP Annual Meeting
Retroperitoneal Fibrosis and IgG4 Disease: Response to Immunosuppressive Therapy – a Single Centre Retrospective Study
Background/Purpose: A retrospective observational study of patients with IgG4 related disease and retroperitoneal fibrosis Methods: Retroperitoneal fibrosis (RPF) is a rare chronic inflammatory condition which…Abstract Number: 1236 • 2014 ACR/ARHP Annual Meeting
IgG4 Immunostaining Is Common but Not Specific in Orbitbal Inflammatory Diseases
Background/Purpose: IgG4-related disease is an emerging clinical entity which frequently involves tissue within the orbit. In order to appreciate the implications of IgG4 immunostaining, we…Abstract Number: 1235 • 2014 ACR/ARHP Annual Meeting
Recovery of Renal Function after Corticosteroid Therapy for IgG4-Related Kidney Disease
Background/Purpose: In our earlier study of IgG4-related kidney disease (IgG4-RKD), we found that renal dysfunction, which was mostly attributable to IgG4-related tubulointerstitial nephritis, was significantly…Abstract Number: 1234 • 2014 ACR/ARHP Annual Meeting
Periodic Fever Syndromes in an Academic Medical Center
Background/Purpose: Most published clinical data on this rapidly evolving group of diseases are from highly specialized centers and do not reflect what is commonly seen…
ACR Meeting Abstracts