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Metadata
ID DOID:0111935
Name immunodeficiency 16
Definition A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33.
https://pubmed.ncbi.nlm.nih.gov/20156905/, https://pubmed.ncbi.nlm.nih.gov/23897980/
Xrefs

OMIM:615593

ORDO:431149

UMLS_CUI:C3810053

Synonyms

combined immunodeficiency due to OX40 deficiency [EXACT]

combined immunodeficiency with childhood-onset Kaposi sarcoma [EXACT]

combined immunodeficiency with impaired immunity to HHV-8 [EXACT]

combined immunodeficiency with impaired immunity to human herpes virus 8 [EXACT]

IMD16 [EXACT]

OX40 deficiency [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

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