Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a
challenge. A better description of the initial presenting manifestations should improve …

In recent years, the incidence of immune-mediated gastrointestinal disorders, including
celiac disease (CeD) and inflammatory bowel disease (IBD), is increasingly growing …

Recent advances in genomic methodologies have significantly enhanced our understanding
of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as …

There is scarce literature about autoinflammation in syndromic patients. We describe a
patient who, in addition to psychomotor and growth delay, presented with fevers …

A Special Issue dedicated in memory of Prof. Fernando Aiuti is a special tribute to a clinician
who led the field of Clinical Immunology in Italy and introduced the entire Italian medical and …

Pathogenic germline variants in ETV6 have been associated with familial predisposition to
thrombocytopenia and hematological malignancies, predominantly childhood B-cell …

While Trisomy X syndrome is typically characterized by developmental and cognitive
variations, it is not commonly associated with immunodeficiencies. We report the unique …

Background: Syndromic immunodeficiencies are a genetically and pathophysiologically
heterogeneous group of inborn errors of immunity. These are characterized by multiple extra …

Objectives: This study aimed to review the literature on the repercussions of the different
inborn errors of immunity on growth, drawing attention to the diagnosis of this group of …

Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that
can affect the development of non-immune organs and systems. The genetic basis of these …