Combined Immunodeficiency
Gene: IKZF2
Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity.
Sources: Expert listCreated: 10 Nov 2024, 3:34 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
HELIOS deficiency MONDO:0800139
Publications
Gene: ikzf2 has been classified as Green List (High Evidence).
Gene: ikzf2 has been classified as Green List (High Evidence).
gene: IKZF2 was added gene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IKZF2 were set to 34826260; 34826259; 34920454 Phenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139 Review for gene: IKZF2 was set to GREEN