| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v1.105 | CD28 | Bryony Thompson Marked gene: CD28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.105 | CD28 | Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.105 | CD28 | Bryony Thompson Classified gene: CD28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.105 | CD28 | Bryony Thompson Gene: cd28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.104 | CD28 |
Bryony Thompson gene: CD28 was added gene: CD28 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD28 were set to 34214472 Phenotypes for gene: CD28 were set to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Review for gene: CD28 was set to AMBER Added comment: A single family reported and supporting mouse model. IUIS IEI committee classify the gene as a Combined immunodeficiency with associated or syndromic features. Sources: Expert list |
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| 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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