lymphoproliferative syndrome 1

Summary
Synonym
  • LPFS1
Definition
A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
Super Class
autosomal recessive disease lymphoproliferative syndrome
External Links
Disease Ontology
DOID:0060707
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 32 in total
Gene ID Gene Symbol Description Source
929 CD14 CD14 molecule
933 CD22 CD22 molecule
952 CD38 CD38 molecule
960 CD44 CD44 molecule (IN blood group)
1056 CEL carboxyl ester lipase
2208 FCER2 Fc epsilon receptor II
2215 FCGR3B Fc gamma receptor IIIb
2271 FH fumarate hydratase
3383 ICAM1 intercellular adhesion molecule 1
3554 IL1R1 interleukin 1 receptor type 1

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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