Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …

Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …

Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …

Common variable immunodeficiency (CVID) is a heterogeneous group of inborn errors of
immunity characterized by reduced serum concentrations of different immunoglobulin …

Nuclear factor κ light-chain enhancer of activated B cells (NF-κB) family of evolutionarily
conserved transcription factors are involved in key cellular signaling pathways. Previously …

Common variable immunodeficiency (CVID) represents the largest group of primary
immunodeficiencies that may manifest with infections, inflammation, autoimmunity, and …

Background and Aims A variant (p. Arg225Trp) of peroxisomal acyl‐CoA oxidase 2
(ACOX2), involved in bile acid (BA) side‐chain shortening, has been associated with …

In monogenic autoinflammatory diseases, mutations in genes regulating innate immune
responses often lead to uncontrolled activation of inflammasome pathways or the type I …

Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B
subunit 1) variants comprise deleterious defects such as severe truncations, internal …

We conducted a nationwide survey of inborn errors of immunity (IEI) in Japan for the second
time in 10 years, focusing on protective measures for IEI patients against infectious …