P02-030 - Unusual CNS manifestation

نویسندگان

  • E Schuh
  • P Lohse
  • I Meinl
  • T Kümpfel
چکیده

Introduction Cryopyrin-associated periodic syndrome (CAPS) is a rare systemic, monogenetic inherited autoinflammatory condition caused by NLRP3/CIAS 1 gene mutations encoding for cryopyrin, a major component of the inflammasome, leading to an excessive production of interleukin-1beta (IL-1ß). The clinical picture of genetic variations of the NLRP3 inflammasome is characterized by recurrent episodes of systemic inflammation involving skin, joints, eyes and the central nervous system and shows variable penetrance regarding disease severity and symptoms.

برای دانلود 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

Mesenteric cyst and unusual manifestation: a case report

Introduction: Mesenteric cysts are rare intra abdominal masses and its prevalence is 1 out of 140000 in general hospitals and 1 out of 20000 in pediatric hospitals. In majority of the cases it is benign with several manifestations. Diagnosis is difficult , but with suspicion to cyst and using paraclinical procedures can be led to definite diagnosis. Case report: In this study a mesenteric cys...

متن کامل

Unusual manifestation of cutaneous Leishmaniasis in a renal transplant recipient

Cutaneous leishmaniasis may present as unusual manifestations in renal transplant patients receiving immunosuppressive therapy. This misleading presentation, may delay the diagnosis and treatment. Moreover special caution must be taken in renal transplant recipients because of possible interactions between antimony compounds and cyclosporine metabolites. We report a 45-year old man with 5 years...

متن کامل

P02-032 - CAPS: a novel mutation and an unusual phenotype

Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cas...

متن کامل

The myxocoumarins A and B from Stigmatella aurantiaca strain MYX-030

The myxobacterial strain Stigmatella aurantiaca MYX-030 was selected as promising source for the discovery of new biologically active natural products by our screening methodology. The isolation, structure elucidation and initial biological evaluation of the myxocoumarins derived from this strain are described in this work. These compounds comprise an unusual structural framework and exhibit re...

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

برای دانلود 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

عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013