autoimmune lymphoproliferative syndrome

Summary
Synonym
  • ALPS
  • Canale-Smith syndrome
Definition
A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
Super Class
hypersensitivity reaction type IV disease
External Links
Disease Ontology
DOID:6688
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 131 - 140 of 141 in total
Gene ID Gene Symbol Description Source
57124 CD248 CD248 molecule
57126 CD177 CD177 molecule
64581 CLEC7A C-type lectin domain containing 7A
79679 VTCN1 V-set domain containing T cell activation inhibitor 1
79694 MANEA mannosidase endo-alpha
83666 PARP9 poly(ADP-ribose) polymerase family member 9
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
126129 CPT1C carnitine palmitoyltransferase 1C
151056 PLB1 phospholipase B1
347734 SLC35B2 solute carrier family 35 member B2

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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