Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TKFC

TKFC (triokinase and FMN cyclase)
EnsemblGeneIds (GRCh38): ENSG00000149476
EnsemblGeneIds (GRCh37): ENSG00000149476
OMIM: 615844, Gene2Phenotype
TKFC is in 6 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

1 patient, homozygous NM_015533.4:c.1624G>A (p.Gly542Arg), non-consanguineous French-Canadian parents. Isolated immunodeficiency distinct from the pre-existing, non-immune TKFCD phenotype (OMIM #618805, multisystem disease with hair/skeletal features): recurrent infections from 18 months, chronic massive EBV viremia unresponsive to rituximab, low IgG with elevated IgA/IgE, near-absent NK cells, reduced switched-memory B cells and recent thymic emigrants. Allogeneic HSCT cured the immunodeficiency. Mechanism: variant selectively abolishes triokinase activity while sparing FMN cyclase activity (independent biochemical assay and yeast complementation). Variant is rare but not absent from gnomAD (AF ~7x10^-5, 1 homozygote in genomes, no reported immunodeficiency) disclosed for completeness. PMID 38697782.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

38697782

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

615844

Clinvar variants

Variants in TKFC

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TKFC was added gene: TKFC was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: TKFC