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 21 - 30 of 35 in total
Gene ID Gene Symbol Description Source
22806 IKZF3 IKAROS family zinc finger 3
23149 FCHO1 FCH and mu domain containing endocytic adaptor 1
28985 MCTS1 MCTS1 re-initiation and release factor
29775 CARD10 caspase recruitment domain family member 10
51135 IRAK4 interleukin 1 receptor associated kinase 4
51311 TLR8 toll like receptor 8
54790 TET2 tet methylcytosine dioxygenase 2
55388 MCM10 minichromosome maintenance 10 replication initiation factor
56259 CTNNBL1 catenin beta like 1
57169 ZNFX1 zinc finger NFX1-type containing 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

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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