primary immunodeficiency disease

Summary
Synonym
  • hypoimmunity
  • immune deficiency disorder
  • immunodeficiency syndrome
Definition
An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
Super Class
immune system disease
Disease Ontology
DOID:612
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 35 in total
Gene ID Gene Symbol Description Source
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5788 PTPRC protein tyrosine phosphatase receptor type C
5966 REL REL proto-oncogene, NF-kB subunit
6573 SLC19A1 solute carrier family 19 member 1
6789 STK4 serine/threonine kinase 4
6850 SYK spleen associated tyrosine kinase
7098 TLR3 toll like receptor 3
7174 TPP2 tripeptidyl peptidase 2
8772 FADD Fas associated via death domain
10092 ARPC5 actin related protein 2/3 complex subunit 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
67075 Magt1 magnesium transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43222 Tl Toll

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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: December 8, 2025