Term Name: | immunodeficiency 121 |
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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. |
Ontology: | Human Disease [DOID:0061087] ( DOID:0061087 ) |