The SARS-CoV-2 Omicron BA.1 variant emerged in 2021 1 and has multiple mutations in its
spike protein 2 . Here we show that the spike protein of Omicron has a higher affinity for …

In humans, interferon γ (IFN-γ) receptor deficiency leads to a predisposition to mycobacterial
infections and impairs the formation of mature granulomas. Interleukin-12 (IL-12) receptor …

The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency
(EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene …

Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …

Motivation: Exome sequencing has proven to be an effective tool to discover the genetic basis
of Mendelian disorders. It is well established that copy number variants (CNVs) contribute …

Background The genetic analysis of human primary immunodeficiencies has defined the
contribution of specific cell populations and molecular pathways in the host defense against …

The kinetics of the immune changes in COVID-19 across severity groups have not been
rigorously assessed. Using immunophenotyping, RNA sequencing, and serum cytokine analysis…

Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections.
Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-…

The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine
and environmental mycobacteria in humans remains largely unknown. We describe 18 …

Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described
combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene …