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| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Marked gene: NFATC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Phenotypes for gene: NFATC1 were changed from Combined Immune deficiency to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.38 | NFATC1 | Zornitza Stark Classified gene: NFATC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.38 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.37 | NFATC1 |
Peter McNaughton gene: NFATC1 was added gene: NFATC1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to PMID: 37249233 Phenotypes for gene: NFATC1 were set to Combined Immune deficiency Review for gene: NFATC1 was set to AMBER Added comment: 3 patients from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective. Single pedigree but supportive functional studies - ?green. Sources: Literature |
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