Abstract The interleukin (IL)-2–IL-2 receptor (IL-2R) pathway is important in immunity, but is
also involved in maintenance of self-tolerance. This paradox is further complicated by …

Human immunoglobulin preparations for intravenous or subcutaneous administration are
the cornerstone of treatment in patients with primary immunodeficiency diseases affecting …

Beginning in 1970, a committee was constituted under the auspices of the World Health
Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the …

Background Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator.
Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation …

Bronchiectasis refers to abnormal dilatation of the bronchi. Airway dilatation can lead to
failure of mucus clearance and increased risk of infection. Pathophysiological mechanisms …

Background Primary immunodeficiencies (PIDs) are inherited diseases associated with a
considerable increase in susceptibility to infections. It is known that PIDs can also …

Antibody deficiency or hypogammaglobulinemia can have primary or secondary etiologies.
Primary antibody deficiency (PAD) is the result of intrinsic genetic defects, whereas …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic
defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting …