Term Name: | immunodeficiency 70 |
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Synonyms: | IMD70 |
Definition: | A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. |
Ontology: | Human Disease [DOID:0112005] ( DOID:0112005 ) |