Identifying genetic errors of immunity due to mosaicism
Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper
Abstract
Inborn errors of immunity are monogenic disorders of the immune system that lead to immune deficiency and/or dysregulation in patients. Identification of precise genetic causes of disease aids diagnosis and advances our understanding of the human immune system; however, a significant portion of patients lack a molecular diagnosis. Somatic mosaicism, genetic changes in a subset of cells, is emerging as an important mechanism of immune disease in both young and older patients. Here, we review the current landscape of somatic genetic errors of immunity and methods for the detection and validation of somatic variants.
Topics & Concepts
Immune systemSomatic cellImmunityDiseaseBiologyImmune dysregulationImmunologyMechanism (biology)GeneticsMedicineGenePathologyEpistemologyPhilosophyImmunodeficiency and Autoimmune DisordersGenomics and Rare DiseasesBlood disorders and treatments