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Copyright of Transfusiology & Haematology Today / Transfuze a Hematologie Dnes is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary immunodeficiencies development (namely BTK, CD40LG, IL2RG, SERPING1, STAT3, and WAS). Of 20 splicing-affecting variants, 16 affected splice site while 4 disrupted potential SRE. The presence or absence of splicing defects was confirmed in 30 of 32 blood-derived patients' RNAs. Testing prediction tools performance, splice site disruptions and creations were reliably predicted in contrast to SRE-affecting variants for which just ESRseq, ΔHZ EI -scores and EX-SKIP predictions showed promising results. Next, we found an interesting pattern in cryptic splice site predictions. These results might help PID-diagnosticians and geneticists cope with potential splicing-affecting variants., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Herpes virus infections represent common complications associated with respiratory tract involvement which may result in pneumonia development in immunocompromised patients. The analysis of bronchoalveolar lavage (BAL) fluid obtained from the lower respiratory tract may contribute to detection of aetiological agents of the disease. The routine use of quantitative molecular methods enables the discrimination between acute infection and viral reactivation with asymptomatic virus shedding. The aim of this review is to evaluate the contribution of BAL viral load monitoring in high-risk patients and to determine the cut-off of viral load leading to progression to herpes virus pneumonia.