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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.10 | RHBDF2 | Arina Puzriakova Publications for gene: RHBDF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 | RHBDF2 | Arina Puzriakova Classified gene: RHBDF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 | RHBDF2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Not yet associated with an immune phenotype in OMIM or G2P, but note that monoallelic variants in this gene are associated with tylosis. To date, 4 individuals from 2 unrelated families have been reported (PMID: 34937930) with LoF variants in this gene and recurrent infections. Functional data includes supportive mouse model. Rating Amber for now awaiting at least one more corroborating case (added watchlist tag) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.9 | RHBDF2 | Arina Puzriakova Gene: rhbdf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 | RHBDF2 |
Boaz Palterer gene: RHBDF2 was added gene: RHBDF2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency Penetrance for gene: RHBDF2 were set to unknown Review for gene: RHBDF2 was set to RED Added comment: iRHOM deficiency with Respiratory and Intestinal inflammation and cytokine Secretion defect’ (IRIS): Kubo et al. (https://www.nature.com/articles/s41590-021-01093-y) described a new immunodeficiency disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in 4 subjects across two kindreds with recurrent infections in different organs. The disease presentation is pleiotropic, with one patient with recurrent pneumonia but no colon involvement, another had recurrent infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. They replicated the phenotype in a KO mouse model and provided functional data. Sources: Literature |
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