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Metadata
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

MIM:620807

Synonyms

immunodeficiency 121 with autoinflammation [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a severe combined immunodeficiency

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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