Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function
J Chang, M Yamashita, AK Padhi, KYJ Zhang… - Frontiers in …, 2023 - frontiersin.org
AIOLOS, encoded by IKZF3, is a member of the IKZF family of proteins that plays an
important role in regulating late B-cell differentiation. Human individuals heterozygous for …
important role in regulating late B-cell differentiation. Human individuals heterozygous for …
AIOLOS-Associated Inborn Errors of Immunity
M Yamashita, T Morio - Journal of Clinical Immunology, 2024 - Springer
AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor
family and plays a pivotal role in regulating lymphocyte development. Recently …
family and plays a pivotal role in regulating lymphocyte development. Recently …
Helios—Illuminating the way for lymphocyte self‐control
I Hetemäki, TP Arstila, E Kekäläinen - Immunology, 2024 - Wiley Online Library
Transcription factor Helios, encoded by the IKZF2 gene, has an important role in regulatory T
cells by stabilizing their suppressive phenotype. While Helios is prominently expressed in …
cells by stabilizing their suppressive phenotype. While Helios is prominently expressed in …
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future …
HM Velde, M Vaseghi-Shanjani, JJ Smits… - Human Genetics, 2024 - Springer
Although more than 140 genes have been associated with non-syndromic hereditary
hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing …
hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing …
A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD
Monogenic defects that impair the control of inflammation and tolerance lead to profound
immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals …
immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals …