Term Name: | immunodeficiency 15B |
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Synonyms: | IMD15B |
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. |
Ontology: | Human Disease [DOID:0111959] ( DOID:0111959 ) |