Disclosures: PD Burbelo reported US Patent no. 10,564,152 issued. JC Casanova reported
a patent to 63/055,155 pending and a patent to 63/141,669 pending. No other disclosures …

Since the arrival of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in
December 2019, its characterization as a novel human pathogen, and the resulting coronavirus …

Background Familial Mediterranean fever, mevalonate kinase deficiency (also known as the
hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor–associated …

Clinical laboratory tests are a critical component of the continuum of care. We evaluate the
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n = 363,228 …

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma
diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 …

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR)
doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing …

Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to corticogenesis, …

Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal
dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary …

Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide
association study meta-analysis of 100,204 CRC cases and 154,587 controls of …