Primary immunodeficiencyGene: IKZF3
Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red as only a single family with B cell deficiency has been reported at this time. Includes supportive mouse model showing B cell developmental defects and T cell abnormalities (PMID:34155405).
Created: 29 Jun 2021, 9:22 a.m. | Last Modified: 29 Jun 2021, 9:22 a.m.
Panel Version: 2.435
Motoi Yamashita et al. ( https://www.nature.com/articles/s41590-021-00951-z ) identified 3 patients from a kindred harboring the missense G159R variant in AIOLOS, encoded by the IKZF3 gene. They demonstrated that the variant acts as a dominant-negative mutation through heterodimeric interference by disrupting IKAROS (IKZF1) function.
Created: 22 Jun 2021, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia
Publications for gene: IKZF3 were set to
Gene: ikzf3 has been classified as Red List (Low Evidence).
gene: IKZF3 was added gene: IKZF3 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IKZF3 were set to B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia Penetrance for gene: IKZF3 were set to unknown Review for gene: IKZF3 was set to RED