Details of Disease | DrugMAP

General Information of Disease (ID: DISQOWUX)

Disease Name	Non-severe combined immunodeficiency due to polymerase delta deficiency
Definition	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.
Disease Hierarchy	DIS4IAP9: Non-SCID combined immunodeficiency DISQOWUX: Non-severe combined immunodeficiency due to polymerase delta deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLD1	OTWO4UCJ	Limited	Autosomal recessive	[1]
POLD2	OTBNASP6	Limited	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.