Details of Disease

General Information of Disease (ID: DIS20UEA)

• Disease Name: Obsolete autosomal recessive lymphoproliferative disease
• Synonyms: CD27 deficiency
• Definition: OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DIS20UEA: Obsolete autosomal recessive lymphoproliferative disease

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD27	TTDO1MV	Supportive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD27	OTH7NA58	Supportive	Autosomal recessive	[1]

References

• [1] CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6. doi: 10.1016/j.jaci.2011.11.013. Epub 2011 Dec 24.