Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice - PubMed
5 hours ago
- #Autoimmune Diseases
- #Rheumatology Practice
- #Monogenic Disorders
- Recent advances in high-throughput sequencing have identified monogenic autoimmune and autoinflammatory disorders that can appear in late adolescence or adulthood.
- These conditions can arise from germline or somatic mutations and may mimic common rheumatologic diseases like systemic lupus erythematosus and vasculitides.
- Affected individuals often show incomplete penetrance, variable expressivity, or atypical phenotypes, complicating diagnosis without classical Mendelian inheritance patterns.
- The review covers germline inborn errors of immunity and somatic mutation-driven conditions relevant to adult rheumatology practice.
- It discusses clinical features that should prompt genetic evaluation and practical considerations for genetic testing in adults.
- Integrating molecular diagnostics into rheumatology care can refine disease classification and guide targeted, mechanism-based therapies.
- Keywords include Genetic testing, autoinflammatory disease, inborn errors of immunity, monogenic autoimmunity, monogenic disease, and precision medicine.