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Metadata
ID DOID:0112003
Name immunodeficiency 33
Definition A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in IKBKG on chromosome Xq28.
https://pubmed.ncbi.nlm.nih.gov/15356572/, https://pubmed.ncbi.nlm.nih.gov/31965418/
Xrefs

MESH:C567070

OMIM:300636

Synonyms

IMD33 [EXACT]

X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency [EXACT]

X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency [EXACT]

X-linked MSMD due to IKBKG deficiency [EXACT]

X-linked MSMD due to NEMO deficiency [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a X-linked recessive disease

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