Beáta Tóth

TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.

TL;DR: Investigation and description of patients with CMCD in Eastern and Central Europe and the biochemical impact of STAT1 mutations, to determine cytokines in supernatants of Candida-exposed blood cells, to determined IL-17-producing T cell subsets and to determine STAT1 haplotypes in a family with the c.820C>T (R274W) mutation are presented.

TL;DR: Functional and genetic data support that the novel H332Y mutation may result in the loss of function ofSTAT3 and leads to the HIES phenotype, and suggest, that dominant negative mutations of the DNA-binding and SH2 domains of STAT3 cause AD and sporadic cases of HIES in different ethnic groups.

TL;DR: Department of Infectious and Paediatric Immunology, Medical and Health Science Centre, University of Debrecen, Hungary (B Toth PhD, L Mehes MD, S Tasko, Prof L Marodi MD); Department of Dermatology, Heim Pal Children’s Hospital, Budapest, Hungarian (Z Szalai MD).

TL;DR: Inborn errors of immunity arising from mutations in either STAT1 or STAT3 that affect mucocutaneous immunity to Candida and Staphylococcus species are considered.