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Combined immunodeficiency due to OX40 deficiency(IMD16)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Immunodeficiency 16; OX40 DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): TNFRSF4 (1p36.33)
Monarch Initiative: MONDO:0014268
OMIM®: 615593
Orphanet: ORPHA431149


Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013). [from OMIM]

Clinical features

From HPO
Kaposi sarcoma
MedGen UID:
Concept ID:
Neoplastic Process
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000). Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Coombs-positive hemolytic anemia
MedGen UID:
Concept ID:
Disease or Syndrome
A type of hemolytic anemia in which the Coombs test is positive.
MedGen UID:
Concept ID:
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
MedGen UID:
Concept ID:
Abnormal increased size of the spleen.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined immunodeficiency due to OX40 deficiency

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