Hana Grombiříková

TL;DR: Overall, standardized IHMS protocol Q, recommended by the International Human Microbiome Consortium, performed the best when considering all the parameters analyzed, and thus could be applied not only in bacterial, but also in fungal microbiome research.

TL;DR: It is suggested that gut bacterial microbiota is altered in CVID patients and may be one of the missing environmental drivers contributing to some of the symptoms and disease severity.

TL;DR: The results suggest that detecting aberrant transcripts, which are often low abundant because of nonsense-mediated decay, requires a modified methodological approach, and suggest SERPING1 intron 6 sequencing and/or tailored mRNA analysis to be routinely used in HAE patients with no mutation identified in the coding sequence.

TL;DR: Functional polymorphisms in genes with a possible disease‐modifying effect, B1 and B2 bradykinin receptors (BDKR1, BDKR2), angiotensin‐converting enzyme (ACE) and mannose‐binding lectin (MBL2), were analysed in 36 unrelated HAE patients.

TL;DR: Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene, and some variants have been characterized as benign/likely benign/of uncertain significance.