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pancytopenia due to IKZF1 mutations | RareConnect | RareConnect.io

/common variable immunodeficiency

/pancytopenia due to IKZF1 mutations

pancytopenia due to IKZF1 mutations

Rare Disease

MONDO:0014810

Also Known As

CVID13Cid due to IKAROS deficiencyIKZF1 syndrome with combined immunodeficiencycombined immunodeficiency due to IKAROS deficiencyimmunodeficiency, common variable, 13immunodeficiency, common variable, type 13syndrome with combined immunodeficiency caused by mutation in IKZF1

Definition

Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616873 ↗

Orphanet

Orphanet:317473 ↗

GARD

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