The transcription factor NF-κB regulates multiple aspects of innate and adaptive immune
functions and serves as a pivotal mediator of inflammatory response. In the first part of this …

Summary Cytotoxic‐T‐lymphocyte‐antigen‐4 (CTLA‐4) is a negative immune regulator
constitutively expressed on regulatory T (Treg) cells and upregulated on activated T cells …

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by
autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I …

Non-infectious complications in common variable immunodeficiency (CVID) have emerged
as a major clinical challenge. Detailed clinical spectrum, organ-specific pathologies and …

Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous
mutations in NFKB2 have recently been established as a molecular cause of common …

Starting about 60 years ago, a number of reports appeared that outlined the severe clinical
course of a few adult subjects with profound hypogammaglobinemia. Puzzled by the lack of …

Identifying whether a given genetic mutation results in a gene product with increased (gain-
of-function; GOF) or diminished (loss-of-function; LOF) activity is an important step toward …

Central nervous system (CNS) function recovery following stroke remains a major challenge
because neural regeneration is difficult to achieve. In this study, rigid-flexible composite …

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency,
however, has manifested with two distinct presentations to date: susceptibility to …

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