| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Susceptibility to Viral Infections v1.10 | DOCK2 | Zornitza Stark Phenotypes for gene: DOCK2 were changed from Inborn error of immunity, MONDO:0003778, DOC2-related to Inborn error of immunity, MONDO:0003778, DOCK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark edited their review of gene: DOCK2: Changed phenotypes: Inborn error of immunity, MONDO:0003778, DOCK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Marked gene: DOCK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Classified gene: DOCK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.9 | DOCK2 | Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v1.8 | DOCK2 |
Zornitza Stark gene: DOCK2 was added gene: DOCK2 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DOCK2 were set to 41654261 Phenotypes for gene: DOCK2 were set to Inborn error of immunity, MONDO:0003778, DOC2-related Review for gene: DOCK2 was set to GREEN Added comment: Six individuals from three unrelated families, aged 3 months to 50 years, reported with one of three heterozygous variants in DOCK2 and severe infections with human papilloma virus, respiratory syncytial virus, or SARS-CoV-2. All variants reside within the DOCK2 domain that binds and stabilizes ELMO1. Each variant reduced DOCK2 protein expression, ELMO1 binding, and DOCK2 function, as shown by diminished Rac1 activation and selective defects in Toll-like receptor signaling. Weekly IFN-α therapy led to complete resolution of refractory warts in one patient, highlighting a potential therapeutic approach for DOCK2-associated immunodeficiency. Sources: Literature |
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