The vast interindividual clinical variability observed in any microbial infection—ranging from
silent infection to lethal disease—is increasingly being explained by human genetic and …

Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …

Skeletal deformities are typical AD-HIES manifestations, which are mainly caused by
heterozygous and loss-of-function mutations in Signal transducer and activator of …

IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted
in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R. We …

The molecular basis of interindividual clinical variability upon infection with Staphylococcus
aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase …

Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency
have been diagnosed over the last 20 years. They typically suffer from invasive …

The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in
development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT …