Ivona Aksentijevich

TL;DR: A two-generation six-member Dutch family in which a novel R92P mutation and reduced plasma TNFRSF1A levels were found were found in all the children, including two who are unaffected, however, only the daughter proband and father exhibited a typical TNF-receptor associated periodic syndrome (TRAPS) phenotype.

TL;DR: The spectrum of TNFRSF1A mutations associated with TRAPS is expanded, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and etanercept as an efficacious treatment alternative is confirmed.

TL;DR: Hmatopoietic stem cell transplantation (HSCT) has been shown to be a definitive cure in DADA2 patients who present with a severe cytopenia and is the treatment modality for patients’ refractory to anti‐cytokine therapies.

TL;DR: The spectrum of CIAS1 mutations associated to clinical disease is expanded, it is suggested that the same mutation can be associated with different clinical syndromes, and the evidence that CAPS patients should always be screened for mutations outside exon 3 is supported.

TL;DR: The mouse and rat homologs of MEFV have several important domains and signals found in human pyrin, including a B-box zinc finger domain, Robbins-Dingwall nuclear localization signal, and coiled-coil domain, but neither the mouse nor the rat protein has an intact C-terminal B30.2 domain.