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Metadata
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

OMIM:615592

UMLS_CUI:C4747743

Synonyms

IMD15B [EXACT]

Parent Relationships

is_a severe combined immunodeficiency

is_a autosomal recessive disease

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