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Metadata
ID DOID:0061078
Name immunodeficiency 109
Definition A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36.
https://pubmed.ncbi.nlm.nih.gov/30872117/
Xrefs

MIM:620282

Synonyms

Immunodeficiency-109 with EBV-induced lymphoproliferation [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal recessive inheritance

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