Term Name: immunodeficiency 15B
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 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency