Inborn errors of the immune system affect many critical regulators of immunity and can lead to aberrant immunity. Currently, more than 400 monogenetic defects have been described in humans, which result in a primary immunodeficiency (PID). These defects result either in a loss-of-function (LOF) or a gain-of-function (GOF) of the affected gene product and can manifest as increased susceptibility to infections, often combined with autoimmunity, allergy and/or malignancy.
Studying genetic defects in PID has not only allowed us to uncover the underlying causes of disease but has also been shown to provide excellent models to gain insight in the development and function of the immune system by providing truly natural genetic models. The disadvantage of studying human immunodeficiencies is that they are rare and patient material is scarce and not always available. Therefore, mouse models have been very valuable to complement findings in a human setting in a more controlled environment.
The main goal of this research topic is to gain insight in lymphocyte biology by studying human immunodeficiencies and related mouse or in vitro models. We welcome the submission of Original Research, General Commentary, Opinion, Review and Mini Review articles covering, but not limited to, the following themes:
- New insight in lymphocyte biology by studying genetic defects in human
- Novel genetic defects in primary immunodeficiencies
- Using mouse models to further elucidate the function of a gene in the development of the immune system
- In vitro models that allows the studying of lymphocyte biology in the context of primary immunodeficiencies
Inborn errors of the immune system affect many critical regulators of immunity and can lead to aberrant immunity. Currently, more than 400 monogenetic defects have been described in humans, which result in a primary immunodeficiency (PID). These defects result either in a loss-of-function (LOF) or a gain-of-function (GOF) of the affected gene product and can manifest as increased susceptibility to infections, often combined with autoimmunity, allergy and/or malignancy.
Studying genetic defects in PID has not only allowed us to uncover the underlying causes of disease but has also been shown to provide excellent models to gain insight in the development and function of the immune system by providing truly natural genetic models. The disadvantage of studying human immunodeficiencies is that they are rare and patient material is scarce and not always available. Therefore, mouse models have been very valuable to complement findings in a human setting in a more controlled environment.
The main goal of this research topic is to gain insight in lymphocyte biology by studying human immunodeficiencies and related mouse or in vitro models. We welcome the submission of Original Research, General Commentary, Opinion, Review and Mini Review articles covering, but not limited to, the following themes:
- New insight in lymphocyte biology by studying genetic defects in human
- Novel genetic defects in primary immunodeficiencies
- Using mouse models to further elucidate the function of a gene in the development of the immune system
- In vitro models that allows the studying of lymphocyte biology in the context of primary immunodeficiencies
