Pathogen-driven evolution has shaped the complexity of the human immune system. Our
genome contains at least 1854 gene products involved in immune responses. However, the …

NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments.
Following the successful implementation of SCID-NBS programs, a call for the early …

The clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9
(CRISPR/Cas9) system is a versatile and convenient genome-editing tool with prospects in …

Background Signaling through the T-cell receptor (TCR) is critical for T-cell development
and function. Linker for activation of T cells (LAT) is a transmembrane adaptor signaling …

Recombination-activating genes (RAG1 and RAG2) are critical for lymphoid cell
development and function by initiating the variable (V), diversity (D), and joining (J)(V (D) J) …

Abstract Recombination-activating genes (RAG) 1 and RAG2 initiate the molecular
processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense …

Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish
newborn screening program in August 2019 and here we report the results of the first year. T …

Patients with inborn errors of immunity (IEI) have been transplanted for more than 50 years.
Many long-term survivors have ongoing medical issues showing the need for further …

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of
patients with suspicion of primary immunodeficiency (PID). In this technical report we …

In addition to being a vital organ for gas exchange, the lung is a crucial immune organ
continuously exposed to the external environment. Genetic defects that impair immune …