Search Ontology:
Human Disease

immunodeficiency 121

Term ID
DOID:0061087
Synonyms
  • immunodeficiency 121 with autoinflammation
Definition
A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/38503300/
References
Ontology
Human Disease   ( DOID:0061087 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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