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immunodeficiency 15B
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111959
- Mondo Disease Ontology
- UMLS
- OMIM
