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Metadata
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

MIM:618969

Synonyms

IMD70 [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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