Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112005 )
Relationships
is a type of
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Genes Involved
Zebrafish Models