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Metadata
ID DOID:0111990
Name immunodeficiency 30
Definition A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11.
https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/9603732/, https://pubmed.ncbi.nlm.nih.gov/9603733/
Xrefs

OMIM:614891

ORDO:319552

UMLS_CUI:C4013949

Synonyms

IMD30 [EXACT]

Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency [EXACT]

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency [EXACT]

MSMD due to complete IL12RB1 deficiency [EXACT]

MSMD due to complete interleukin 12 receptor beta 1 deficiency [EXACT]

Parent Relationships

is_a T cell and NK cell immunodeficiency

is_a autosomal recessive disease

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