Search Ontology:
Human Disease
immunodeficiency 113
- Term ID
- DOID:0051056
- Synonyms
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- Definition
- A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/37349293/
- References
- Ontology
- Human Disease ( DOID:0051056 )
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Genes Involved
Zebrafish Models