immunodeficiency 70

Term ID

DOID:0112005

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. https://pubmed.ncbi.nlm.nih.gov/32499645/

References

• OMIM:618969

Ontology

Human Disease   ( DOID:0112005 )