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Primary immunodeficiency

Gene: IKZF2

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IKZF2 (IKAROS family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000030419
EnsemblGeneIds (GRCh37): ENSG00000030419
OMIM: 606234, Gene2Phenotype
IKZF2 is in 1 panel

1 review

Boaz Palterer (University of Florence)

Patients carrying the IKZF2 variant presented with a combined immunodeficiency phenotype characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Reduced Helios expression was associated with chronic T cell activation and increased production of proinflammatory cytokines both in effector and regulatory T cells.
Sources: Literature
Created: 23 Dec 2021, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • combined immunodeficiency
  • thrush
  • mucosal ulcers
  • chronic lymphoadenopathy
  • reduced MAIT cells
OMIM
606234
Clinvar variants
Variants in IKZF2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

23 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

gene: IKZF2 was added gene: IKZF2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IKZF2 were set to 34826260 Phenotypes for gene: IKZF2 were set to combined immunodeficiency; thrush; mucosal ulcers; chronic lymphoadenopathy; reduced MAIT cells Penetrance for gene: IKZF2 were set to unknown