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 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
64170 CARD9 caspase recruitment domain family member 9
84888 SPPL2A signal peptide peptidase like 2A
90268 OTULIN OTU deubiquitinase with linear linkage specificity
96459 FNIP1 folliculin interacting protein 1
219972 MPEG1 macrophage expressed 1
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.4.0

Last updated: December 8, 2025