OR7-002 – Pyrin 577 mutations in dominant autoinflammation

نویسندگان

  • M Stoffels
  • A Szperl
  • A Simon
  • MG Netea
  • TS Plantinga
  • M van Deuren
  • S Kamphuis
  • H Lachmann
  • E Cuppen
  • WP Kloosterman
  • J Frenkel
  • CC van Diemen
  • C Wijmenga
  • M van Gijn
  • JW van der Meer
چکیده

Results Whole exome sequencing revealed a novel missense sequence variant, not seen in around 6800 controls, mapping to exon 8 of the MEFV gene (c.1730C>A; p.T577N), co-segregating perfectly with disease in this family. Other mutations at the same amino acid (c.1730C>G; p.T577S; c.1729A>T; p.T577S) were found in a family of Turkish descent, with autosomal dominant inheritance of FMF-like phenotype, and a Dutch patient, respectively. Moreover, a mutation (c.1729A>G; p. T577A) was detected in 2 Dutch siblings, suffering from episodes of inflammation of varying severity not resembling FMF. PBMCs from one patient of the index family revealed increased basal IL-1b mRNA levels and cytokine responses after LPS stimulation. Responses normalized under colchicine treatment.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

OR7-001 – By chip pyrin binds the IRF2 promoter

Introduction The gene causing familial Mediterranean fever (FMF), MEFV, encodes a protein, pyrin, which is expressed at high levels in granulocytes, monocytes, dendritic cells and in some human myeloid leukemia cell lines, such as THP.1. Studies of pyrin localization show a cell-type dependency. In transfection experiments full-length pyrin is cytoplasmic and associates with the cytoskeleton. H...

متن کامل

PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients

Introduction Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding d...

متن کامل

OR7-003 – MEFV genotype, IL1B and role of NLRP3 in FMF

Introduction Familial Mediterranean fever (FMF) is the most common of the hereditary autoinflammatory disorders. FMF is caused by mutations of MEFV gene which encodes for pyrin. It has been recently reported that frequency of FMF-like symptoms decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation. The effectiveness of interleukin (...

متن کامل

Molecular modeling of complete tertiary structure of pyrin and influence of mutations on it

Introduction Pyrin protein is the product of the MEFV gene, mutations in which cause the manifestation of Familial Mediterranean Fever (FMF). Complete tertiary structure of pyrin and the effects of mutations on it are still experimentally not studied. Mutations E148Q, M680I, M694V, M694I, V726A, A744S and R761H of pyrin induce manifestation of the most widespread and severe forms of FMF. One st...

متن کامل

OR7-005 – Canakinumab in childhood colchicine resistant FMF

Introduction Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory syndrome affecting >10,000 people in Israel. FMF is caused by mutations in the MEFV gene, which encodes for the pyrin protein that is part of the inflammation complex that activates IL-1b. Evidence from case reports/series and one controlled study supports IL-1 blockage as a potential treatment for FM...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013