Metadata | |
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ID | DOID:0112005 |
Name | immunodeficiency 70 |
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. https://pubmed.ncbi.nlm.nih.gov/32499645/ |
Xrefs | |
Synonyms |
IMD70 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |