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Primary immunodeficiency or monogenic inflammatory bowel disease v8.71 TNFSF9 Ida Ertmanska reviewed gene: TNFSF9: Rating: RED; Mode of pathogenicity: None; Publications: 35657354; Phenotypes: EBV lymphoproliferation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.71 TNFSF9 Ida Ertmanska Classified gene: TNFSF9 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.71 TNFSF9 Ida Ertmanska Gene: tnfsf9 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 TNFSF9 Boaz Palterer gene: TNFSF9 was added
gene: TNFSF9 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF9 were set to 35657354
Phenotypes for gene: TNFSF9 were set to EBV lymphoproliferation; smooth muscle tumors
Penetrance for gene: TNFSF9 were set to unknown
Review for gene: TNFSF9 was set to RED
Added comment: Fournier et al. described one patient with DiGeorge syndrome with a unique susceptibility to EBV with broad EBV infection and smooth muscle tumors. He was found to have a homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of the T cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes to EBV infection.

They show that CD137LV140G mutant was weakly expressed on patient cells or when ectopically expressed in HEK and P815 cells. Importantly, patient EBV-infected B cells failed to trigger the expansion of EBV-specific T cells, resulting in decreased T cell effector responses. T cell expansion was recovered when CD137L expression was restored on B cells.
Sources: Literature