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Metadata
ID DOID:0061054
Name immunodeficiency 84
Definition A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21.
https://pubmed.ncbi.nlm.nih.gov/34155405/
Xrefs

MIM:619437

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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