Metadata | |
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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 | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |