Illustration of the mutation and ADA2 activity.

Slides:



Advertisements
Similar presentations
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Advertisements

CYB561 mutations. CYB561 mutations. The upper part shows the structure of the CYB561 gene, with the positions of the identified mutations indicated. Gray.
Persistence of first tumour necrosis factor alpha inhibitor (TNFi) by TNFi Kaplan-Meier plot of time (years) to discontinuation of treatment by TNFi. (A)
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Flow chart of the steps in the EMEUNET Peer Review Mentoring Program.
Naïve B cells (CD19+CD27-), memory B cells (CD19+CD27+) and plasmablasts (PB CD27++) levels in patients with systemic sclerosis. Indicated points resemble.
Figure 3 Transcripts of the splicing mutation (c
Flow cytometry analysis of HLA-B27 and HLA-B7 transduced cells.
Lifecycle of the urinary catheter
Kaplan-Meier survival plots for survival without: (A) progression to RA according to the number of joints with significant synovitis defined by GS≥ grade.
Percentage of patients achieving EULAR response
ASAS 20/40 response rates, and mean change from baseline in BASDAI through week 156* of treatment. *For patients who discontinued, the end of treatment.
Endochondral bone formation in HLA-B27 transduced ATDC5 micromasses.
Figure WDR45 sequence changes in patients A and B
Flow diagram of the literature search process, including exclusions and reasons for exclusions. *Population of pregnant women (n=2), asymptomatic antiphospholipid.
VEGF is upregulated in the arterial wall of patients with biopsy-proven GCA but not in controls. VEGF is upregulated in the arterial wall of patients with.
Mean concentrations (mM) of PG1+2, PG3 and PG4+5 in patients with or without MTX-related toxicity at baseline, week 4 and week 24/26 in (A) CONCERTO and.
Change over time in ossification of the posterior longitudinal ligament (OPLL)-like ectopic ossification in individual Enpp1ttw/ttw mice reported in figure.
Radiological findings on the development of ossification of the posterior longitudinal ligament (OPLL)-like ectopic ossification in famotidine-treated.
ASAS 20/40 responses in anti-TNF-naïve and anti-TNF-IR subjects at weeks 52, 104 and 156. ASAS 20/40 responses in anti-TNF-naïve and anti-TNF-IR subjects.
The patient profiles presented to rheumatologists in the discrete choice experiment (DCE). aCCP, anti-cyclic citrullinated peptide; DAS28, 28-joint Disease.
Frequency of patients in flare at each time point over 3 months
Cumulative incidence of tuberculosis (TB) in certolizumab pegol (CZP)-treated patients with rheumatoid arthritis (RA) in the pooled RA safety database.
Schematic presentation of enrichment through linkages of clinical Rheumatology register data to other national data sources within each of the five Nordic.
Three different reconstructions after one single mDixon sequence of
The severity of fatigue over 8 years of disease in early rheumatoid arthritis patients. The severity of fatigue over 8 years of disease in early rheumatoid.
Efficacy outcomes in patients aged ≥65 years versus younger patients: ACR outcomes at (A) week 12 and (B) week 24. Efficacy outcomes in patients aged ≥65.
Ratings of core domains stratified by stakeholder group in the second Delphi round. Ratings of core domains stratified by stakeholder group in the second.
Foot maps showing the patterns of average tissue stress, peak tissue stress, urate deposition in gout and bone erosion in gout. Foot maps showing the patterns.
Switching of biological agents (BAs), and achievement of inactive disease and clinical remission (CR). Switching of biological agents (BAs), and achievement.
DAS28-CRP cut-off values corresponding to the DAS28-ESR cut-off values for remission, LDA and HDA, average of three statistical approaches. DAS28-CRP cut-off.
IFN and neutrophil gene expression studies.
Association between PGIC and change (Δ) in (A) Pain (VAS), (B) PGA, (C) FIQ, (D) HAQ, (E) Body Map, (F) MPQ). Association between PGIC and change (Δ) in.
Probability plots JSN score at baseline (A), 10 years (B) and progression (C) for the different age groups (darkest dots: group
EULAR-defined characteristics describing arthralgia at risk for RA
Osteogenesis in monolayer HLA-B27 transduced hPDCs.
Properties of leucocyte subset-specific type 1 interferon (IFN-1) modules. Properties of leucocyte subset-specific type 1 interferon (IFN-1) modules. (A)
The association between alcohol consumption and the severity of MRI-detected inflammation in hand and foot joints of (A) patients with RA and (B) asymptomatic.
Difference in the risk of MACEs in patients treated with anti–IL17 agents compared with the placebo in RCTs. IL,interleukin; MACEs, major adverse cardiovascular.
Matrix risk model showing the probability of SRP in patients with moderate disease activity after 3 years of MTX treatment. Matrix risk model showing the.
Multivariate analysis for SRP after 3 years in patients with moderate disease activity despite MTX treatment. Multivariate analysis for SRP after 3 years.
Clinical expertise of GPs and rheumatologists in differentiating patients with arthralgia. Clinical expertise of GPs and rheumatologists in differentiating.
Relative impact of the different levels of education on the physical and mental components of SF-12 across the different chronic disorders. Relative impact.
Imaging of patient 1. Imaging of patient 1. (A) Muscle MRI of both legs performed at the age of 5 years: coronal gadolinium-enhanced T1-weighted sequence.
Graphical display for QUADAS-2 results.
The clinical and histological changes of arthritis in gp130F759.
Difference in the risk of MACEs in patients treated with anti-IL23 agents compared with the placebo in RCTs. IL, interleukin; MACEs, major adverse cardiovascular.
JSN and SvdH damage and progression scores with and without the CMC3-5 joints. JSN and SvdH damage and progression scores with and without the CMC3-5 joints.
Results from the second Delphi step showing the percentage of rated domains that the experts agreed on as domains for the annual systemic assessment of.
Rates of ACR50 response and prespecified MTX-related adverse events in patients in the (A) CONCERTO study over 26 weeks and (B) MUSICA study over 24 weeks. ACR50, American.
Employment of patients with AS compared with controls, by BASDAI
ACR20/50/70 response rates at week 24 (TP1 per-protocol set).
MRI, STIR sequence of sacroiliac joints (SIJs): minimal localised signal increase on both sides of the upper part of the left SIJ (arrows), which does.
Frequency of methotrexate (MTX) doses at 24 months (plot) and summary of MTX doses across the MTX dosing categories (low, medium, high) based on data at.
Subject disposition through week 156 of treatment
Mean (SE) maximum urinary uric acid excretion rate (mg/hour) following verinurad doses in combination with febuxostat 40 or 80 mg vs febuxostat 40 or 80 mg.
Difference in the risk of MACEs in patients treated with anti-TNF agents compared with the placebo in RCTs. MACEs, major adverse cardiovascular events;
Satisfaction with control of RA
Achievement of MDA over 144 weeks in patients initially receiving adalimumab or placebo during the double-blind period. Achievement of MDA over 144 weeks.
Classification tree with the selected characteristics.
Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.
The QT interval responses to different pacing rates in a patient in group I. The pacing rate was decreased from 110 to 50 beats/min and the QT interval.
Network graph illustrating the relation between the assessed structural abnormalities on different locations within the knee joint in the total NEO study.
Example of pathological MRI (T1-weighted sequence after gadolinium) of the ankle from a patient with peripheral spondyloarthritis (female, 46 years). ‘O’,
Depiction of bone marrow oedema using different techniques
Graphical representation of the content of the Social Role Participation Questionnaire (SRPQ), which assesses several dimensions of role participation.
Relation of P-gp+CD69+CD4+ cells with outcome of intensive immunosuppressive therapy in patients with active proliferative lupus nephritis (LN). Relation.
NRDC and TNF-α increase in synovial fluid from patients with RA
Changes in non-classical (CD11b+CD14+CD163−CD16+) and classical (CD11b+CD14+CD163+CD16−) monocytes over time in patients with rheumatoid arthritis (RA)
Distribution of points (%) across the ESSDAI domains in patients with neurological involvement and in those with non-neurological systemic involvement.
Presentation transcript:

Illustration of the mutation and ADA2 activity. Illustration of the mutation and ADA2 activity. (A) Sanger sequencing analysis illustrating the point c.1358A>G mutation which was identified in both sisters. (B) Reverse quantitative PCR (RQ-PCR, copy number calculated) illustrating the exon 7 deletion in the two sisters and in the father. CECR1-E7a and CECR1-E7b are two distinct amplicons encompassing exon 7 of CECR1 gene, to avoid a possible rare polymorphism in a primer hybridisation site. (C) CECR1 mutations result in a decrease in ADA2 activity in patient plasma. The figure shows the ADA2 activity in the plasma of the two patients tested on two occasions, compared with ADA2 activity in the plasma of four controls (***p<0.001). F Uettwiller et al. RMD Open 2016;2:e000236 Copyright © BMJ Publishing Group & EULAR. All rights reserved.