Term Name: immunodeficiency 121
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 )

Relationships
is a type of: autosomal dominant disease severe combined immunodeficiency