Tomas Milota

TL;DR: The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease and clinical trials of selective PI3K&dgr; inhibitors offer new prospects for APDS treatment.

TL;DR: The European Society for Immunodeficiencies (ESID)-APDS registry as discussed by the authors provides a comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies.

TL;DR: Major clinical improvement was achieved after 8 weeks of ruxolitinib treatment, while sustained suppression of IFNγ- and IFNα-induced phosphorylation of STAT1, STAT3, and STAT5, as well as increased STAT3-inducible and Th17-related gene expression, was demonstrated ex vivo.

TL;DR: In this paper, age-related initial presenting manifestations of Inborn errors of immunity (IEI) including different IEI disease cohorts were analyzed. But, although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.

TL;DR: The incidence of malignancy in the first Czech nationwide study focused on epidemiology, immunology and genetic background in a cohort of CVID patients who also developed tumors was found to be more than 6 times greater compared to the general population.