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
Disease Ontology
DOID:0060706
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
331 XIAP X-linked inhibitor of apoptosis
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P98170 E3 ubiquitin-protein ligase XIAP

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025