Details of Disease | DrugMAP

General Information of Disease (ID: DISVOE09)

Disease Name	Severe combined immunodeficiency due to CD70 deficiency
Synonyms	lymphoproliferative syndrome 3
Disease Hierarchy	DIS6MF4Q: Severe combined immunodeficiency DISMVL8O: Lymphoproliferative syndrome DISVOE09: Severe combined immunodeficiency due to CD70 deficiency
Disease Identifiers	MONDO ID MONDO_0034054 UMLS CUI C5568559 OMIM ID 618261 MedGen ID 1799982 Orphanet ID 538958 SNOMED CT ID 1186715006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD70	TTNCIE0	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD70	OTHB2AL1	Strong	Autosomal recessive	[1]
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References

1	Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. J Exp Med. 2017 Jan;214(1):73-89. doi: 10.1084/jem.20160784. Epub 2016 Dec 23.