P03-014 - Biological therapy for autoinflammatory disorders

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P03-014 - Biological therapy for autoinflammatory disorders

Methods Clinical files of 30 adult patients diagnosed with AD followed by the same clinical team of the Internal Medicine Service of Vall Hebron hospital were reviewed. Demographic, clinical, laboratory, and therapeutic data prior and after starting BT were collected. Data from BT treated patients included: reason for prescription, drug, dosage, treatment duration, response to treatment, tolera...

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P03-023 – Autoinflammatory diseases database in Japan

Introduction In recent years, responsible genes for autoinflammatory diseases have been increasingly known and clinical phenotype-genotype correlations of these diseases have been explored through international clinical databases such as EUROFEVER project. However, clinical features of genetic disorders could be affected by countries and races of the patients. Actually, patients with Familial M...

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PW02-001 - Exome sequencing for autoinflammatory disorders

Methods Samples were prepared at the NIH Intramural Sequencing Center using one of four different exome capture kits, and libraries were sequenced on the Illumina HiSeq 2000 platform using 2x100 bp paired-end reads, to an average depth of coverage in the target intervals of 68X across all samples, and with an average of 89% of target bases producing high-confidence calls. The raw data are analy...

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P03-025 – Differential diagnosis of autoimmune disorders

Introduction Mendelian susceptibility to mycobacterial disease (MSMD) is a rare form of primary immunodeficiencies characterized by predisposition for poorly virulent infection agents, primarily non-tuberculous mycobacteria and Salmonella. It has been shown that molecular basis of these diseases is mutations in at least 7 genes in the IL12-dependent IFN-g axis including IFNGR1, IFNGR2, IL-12/IL...

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P02-007 - Childhood autoinflammatory disorders in Qatar

Results Familial Mediterranean Fever: 30 symptomatic children, 9 asymptomatic carriers, and 21 adult relatives were included. Among symptomatic children, the male to female ratio was 1:1, 19 were Arabic, 8 were Persian, and 3 were Turkish/Arabic. Median age at first symptoms was 5 years (range 1 – 16 years). Most common manifestations included recurrent abdominal pain and fever (n=25), arthralg...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a212