Metadata | |
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ID | DOID:0061087 |
Name | immunodeficiency 121 |
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/ |
Xrefs | |
Synonyms |
immunodeficiency 121 with autoinflammation [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |