Details of Disease | DrugMAP

General Information of Disease (ID: DISTZ04G)

Disease Name	Combined immunodeficiency due to OX40 deficiency
Synonyms	OX40 deficiency; IMD16; immunodeficiency 16; immunodeficiency type 16; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to human herpes virus 8
Definition	Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
Disease Hierarchy	DISKR6QJ: Combined immunodeficiency DISTZ04G: Combined immunodeficiency due to OX40 deficiency
Disease Identifiers	MONDO ID MONDO_0014268 UMLS CUI C3810053 OMIM ID 615593 MedGen ID 816383 Orphanet ID 431149

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF4	TTL31H0	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF4	OTDK74C0	Supportive	Autosomal recessive	[1]
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References

1	Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29.