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 the TNFRSF4 gene on chromosome 1p36.33.

Synonyms

combined immunodeficiency due to OX40 deficiency
combined immunodeficiency with childhood-onset Kaposi sarcoma

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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immunodeficiency 16

immunodeficiency 16

Associated Genes

Associated Alleles

Associated Models