Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …

Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that
follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …

Inborn errors of TLR3-dependent type I IFN immunity in cortical neurons underlie forebrain
herpes simplex virus-1 (HSV-1) encephalitis (HSE) due to uncontrolled viral growth and …

Next-generation sequencing (NGS) identifies about 20,000 variants per exome, of which
only a few may underlie genetic diseases. Variant-level methods such as PolyPhen-2 …

Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …

Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …