immunodeficiency 15B

Term ID

DOID:0111959

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. https://pubmed.ncbi.nlm.nih.gov/24369075/

References

• OMIM:615592
• UMLS_CUI:C4747743

Ontology

Human Disease   ( DOID:0111959 )