immunodeficiency 15B (DOID:0111959)
Alliance: disease page
Synonyms: IMD15B
Alt IDs: OMIM:615592, UMLS_CUI:C4747743
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.