Term Name: immunodeficiency 53
Synonyms: IMD53
Definition: A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.
Ontology: Human Disease [DOID:0111992]   ( DOID:0111992 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency