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
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
912 CD1D CD1d molecule
1800 DPEP1 dipeptidase 1
2523 FUT1 fucosyltransferase 1 (H blood group)
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
5335 PLCG1 phospholipase C gamma 1
27306 HPGDS hematopoietic prostaglandin D synthase

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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: August 19, 2024