Details of Disease | DrugMAP

General Information of Disease (ID: DIS7OJMP)

Disease Name	Lymphoproliferative syndrome 2
Synonyms	lymphoproliferative syndrome type 2; lymphoproliferative syndrome 2; lymphoproliferative syndrome caused by mutation in CD27; LPFS2; CD27 lymphoproliferative syndrome
Definition	Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.
Disease Hierarchy	DISMVL8O: Lymphoproliferative syndrome DIS7OJMP: Lymphoproliferative syndrome 2
Disease Identifiers	MONDO ID MONDO_0014054 UMLS CUI C3554540 OMIM ID 615122 MedGen ID 767454

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
CD27	TTDO1MV	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
CD27	OTH7NA58	Strong	Autosomal recessive	[1]
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References

1	Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3.