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X-linked lymphoproliferative syndrome 2
Summary
- Synonym
-
- XIAP deficiency
- XLP2
- Definition
- A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
- Super Class
- X-linked recessive disease lymphoproliferative syndrome
External Links
- Disease Ontology
- DOID:0060706
- Mondo Disease Ontology
- OMIM
- GARD
