Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 70
DOID:0112005
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • IMD70
Cross References
Parent Terms
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None
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