severe combined immunodeficiency

Summary
Synonym
  • SCID
  • combined T and B cell inborn immunodeficiency
Definition
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
Super Class
combined immunodeficiency
Disease Ontology
DOID:627
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
915 CD3D CD3 delta subunit of T-cell receptor complex
3561 IL2RG interleukin 2 receptor subunit gamma
3575 IL7R interleukin 7 receptor
3718 JAK3 Janus kinase 3
5788 PTPRC protein tyrosine phosphatase receptor type C
5993 RFX5 regulatory factor X5
6892 TAPBP TAP binding protein
7535 ZAP70 zeta chain of T cell receptor associated protein kinase 70
64421 DCLRE1C DNA cross-link repair 1C

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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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