Combined Immunodeficiency

Gene: IKZF3

I don't know

Further four patients in a multigenerational family carrying a novel heterozygous variant in IKZF3 (NM_012481:c.479 A>G, p.N160S) associated with T and B cell developmental and functional defects

Created: 12 Jul 2022, 5:02 a.m. | Last Modified: 12 Jul 2022, 5:02 a.m.

Panel Version: 1.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PMID: 34694366

I don't know

Comment when marking as ready: Additional family with good segregation data: two families and mouse model, so upgrade to Green.

Created: 13 Jul 2022, 8:31 a.m. | Last Modified: 13 Jul 2022, 8:31 a.m.

Panel Version: 1.22

Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood.

Mouse model recapitulated phenotype.
Sources: Literature

Created: 28 Jul 2021, 1:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 84, MIM# 619437

Publications

• 34155405