FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 15B ID (Ontology) DOID:0111959 (Human Disease)
Definition A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.
Also Known As "IMD15B"
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 Genes
 immunodeficiency 15B       1
 for disease ribbon | immunodeficiency 15B       1
 model of | immunodeficiency 15B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      immunodeficiency 15B  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
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Synonyms
  • "IMD15B" EXACT OMO:0003012
Secondary IDs
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MIM:615592
UMLS_CUI:C4747743