TY - JOUR
T1 - Identifying genetic errors of immunity due to mosaicism
AU - Schmitz, Elizabeth G.
AU - Griffith, Malachi
AU - Griffith, Obi L.
AU - Cooper, Megan A.
N1 - Publisher Copyright:
© 2025 Schmitz et al.
PY - 2025/5/5
Y1 - 2025/5/5
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105003618137
U2 - 10.1084/jem.20241045
DO - 10.1084/jem.20241045
M3 - Review article
C2 - 40232243
AN - SCOPUS:105003618137
SN - 0022-1007
VL - 222
JO - Journal of Experimental Medicine
JF - Journal of Experimental Medicine
IS - 5
M1 - e20241045
ER -