autoimmune lymphoproliferative syndrome type 2B

Summary
Synonym
  • ALPS with recurrent viral infections
  • ALPS2B
  • CEDS
  • Caspase 8 deficiency
  • Caspase 8 deficiency syndrome
  • Caspase eight deficiency state
  • autoimmune lymphoproliferative syndrome type IIB
  • autoimmune lymphoproliferative syndrome with recurrent viral infections
Definition
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
Super Class
autoimmune lymphoproliferative syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0110116
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
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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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