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 …

Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …

The last decade has witnessed great advances in our understanding of the genetic and
biological basis of childhood acute lymphoblastic leukemia (ALL), the development of …

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

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

Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

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 …