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Metadata
ID DOID:0061097
Name immunodeficiency 132B
Definition A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.
https://pubmed.ncbi.nlm.nih.gov/39579173/
Xrefs

MIM:621096

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal dominant inheritance

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