Giuliana Giardino

TL;DR: The evidence supporting the association of specific risk factors with the development of hypogammaglobulinemia and infections post-RTX is summarized to define a personalized evidence-based risk management plan for patients treated with RTX.

TL;DR: The biological and clinical features of SCIDs are reviewed paying particular attention to the most recently identified forms and to their unusual or extra‐immunological clinical features.

TL;DR: 21 point mutations previously unreported are presented, which further extend the spectrum of pathologic variants and review how the analysis of IP‐associated IKBKG/NEMO hypomorphic mutants has contributed to the understanding of the pathophysiological mechanism of IP disease.

TL;DR: The aim of this review is to summarize all the scientific information so far available to better characterize the pivotal role of the master regulator FOXN1 transcription factor in the TEC lineage specifications and functionality.

TL;DR: Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism could explain intergenerational and intrafamilial phenotypic variability in this syndrome.