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ID DOID:0081155
Name common variable immunodeficiency 13
Definition A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.
https://pubmed.ncbi.nlm.nih.gov/26981933/
Xrefs

MIM:616873

Parent Relationships

is_a common variable immunodeficiency

is_a autosomal dominant disease

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