Natalija Novak

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 × 10−8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.

Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and additional risk genes

M.P was supported by a Fellowship from the German Research Foundation (DFG). This work received infrastructure support through the DFG Cluster of Excellence “Inflammation at Interfaces” (grants EXC306 and EXC306/2), and was supported by grants (WE2678/6-1, WE2678/6-2, WE2678/9) from the DFG and the e:Med sysINFLAME grant no. 01ZX1306A from the German Federal Ministry of Education and Research (BMBF). J.E.A.C. and X.F.C.C.W. are funded by A*STAR SPF funding for translational skin research and genetic orphan diseases

Fehldiagnose kann tödlich enden

Die Letalität des hereditären Angioödems (HAE) hat durch verbesserte diagnostische, aber vor allem auch therapeutische Maßnahmen deutlich abgenommen. Eine gute Aufklärung von Ärzten sowie Patienten und deren Angehörigen über das Krankheitsbild sowie effektive Notfallmaßnahmen sind nach wie vor wichtige Bestandteile des Managements dieser Erkrankung.

Ein umstrittenes Krankheitsbild

ZusammenfassungDie Histaminintoleranz ist ein kontrovers diskutiertes Krankheitsbild, bei dem dass es durch ein Ungleichgewicht zwischen anfallendem Histamin und der Fähigkeit zum Histaminabbau zu multiplen, zum Teil unspezifischen histaminvermittelten Symptomen kommt. Aufgrund der unspezifischen Symptome wird das Krankheitsbild oft nicht erkannt. Dieser Artikel soll einen Überblick über Pathophysiologie, Klinik, Diagnostik und Therapie der Histaminintoleranz geben.