Term Name: immunodeficiency 70
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 )

Relationships
is a type of: autosomal dominant disease combined T cell and B cell immunodeficiency