| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v1.8 | CRACR2A | Seb Lunke Marked gene: CRACR2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.8 | CRACR2A | Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.8 | CRACR2A | Seb Lunke Phenotypes for gene: CRACR2A were changed from HP:0005387; late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; late onset combined immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.7 | CRACR2A | Seb Lunke Classified gene: CRACR2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.7 | CRACR2A | Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.6 | CRACR2A |
Dean Phelan gene: CRACR2A was added gene: CRACR2A was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRACR2A were set to PMID:34908525 Phenotypes for gene: CRACR2A were set to HP:0005387; late onset combined immunodeficiency Review for gene: CRACR2A was set to RED Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production. Further search did not identify any additional publications. Sources: Literature |
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