Publications by authors named "Natasha Vladikine"
We describe humans with rare biallelic loss-of-function variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development.
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- Patients with inherited CARMIL2 or CD28 deficiencies show defective T cell signaling, but CARMIL2's role is less understood.
- Research indicates that the mutant CARMIL2 alleles affect T cell activation and lead to specific immunological issues including low counts of memory T cells and NK cells, as well as weak antibody responses.
- CARMIL2 deficiency leads to serious health issues by age 10, including frequent infections and inflammation, and milder symptoms are observed in patients with somatic reversions in T cells.
Article Synopsis
- The study looks at a patient and their relatives who have unusual skin growths caused by human papilloma virus (HPV).
- The patients have a specific genetic change that makes a part of their immune cells (T cells) not work properly, which affects how their body fights off HPV.
- Even though their T cells don’t respond well to HPV, the patients can still make antibodies against the viruses, showing that they can fight infections differently than expected.
Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations.
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