Metadata | |
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ID | DOID:0111959 |
Name | immunodeficiency 15B |
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/ |
Xrefs | |
Synonyms |
IMD15B [EXACT] |
Parent Relationships |