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| Common Variable Immunodeficiency v0.80 | IL21 | Bryony Thompson Marked gene: IL21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.80 | IL21 | Bryony Thompson Gene: il21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.80 | IL21 |
Bryony Thompson gene: IL21 was added gene: IL21 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 24746753; 19738033 Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11 MIM#615767 Review for gene: IL21 was set to RED Added comment: A single case with a homozygous loss of function variant has been identified with a IBD and CVID-like disorder. Animal models exist in OMIM, but unsure if the null mouse model recapitulates the human phenotype. Sources: Literature |
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