FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 87 ID (Ontology) DOID:0061057 (Human Disease)
Definition A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia.
Also Known As "immunodeficiency 87 and autoimmunity"
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__T cell deficiency_____________|
                                  immunodeficiency 87
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Is a autosomal recessive disease
T cell deficiency
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Synonyms
  • "immunodeficiency 87 and autoimmunity" EXACT
Secondary IDs
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MIM:619573