X-linked lymphoproliferative syndrome 1

Summary
Synonym
  • XLP1
Definition
A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
Super Class
X-linked recessive disease lymphoproliferative syndrome
External Links
Disease Ontology
DOID:0060705
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
912 CD1D CD1d molecule
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