Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice
Clicks: 1
ID: 317071
2026
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
0.0
/100
1 views
0 readers
AI Quality Assessment
Not analyzed
Readership in this journal
Ranked #152 of 202 articles by views in Lara D. Veeken
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 202 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
Advances in high-throughput sequencing and genotype-first approaches have revealed a growing number of monogenic autoimmune and autoinflammatory conditions that present in late adolescence or adulthood and sometimes mimic more common rheumatologic diseases. These disorders arise from both germline and somatic mutations and span a broad spectrum of immune dysregulation, including autoinflammation, autoimmunity, immunodeficiency, allergic disease, and hematological disorders. Importantly, many affected individuals do not exhibit classical Mendelian inheritance or early-onset disease, instead presenting with incomplete penetrance, variable expressivity, or atypical phenotypes that fulfill established classification criteria for diseases such as systemic lupus erythematosus and vasculitides. In this review, we highlight recently described monogenic immune disorders with relevance to adult rheumatology practice, including germline inborn errors of immunity and somatic mutation-driven conditions. We discuss emerging mechanisms that link innate and adaptive immune dysregulation, clinical features that should prompt genetic evaluation, and practical considerations for genetic testing in adult patients. Finally, we examine current challenges and future opportunities in integrating molecular diagnostics into rheumatology care, emphasizing the potential for genetic diagnoses to refine disease classification and inform targeted, mechanism-based therapeutic approaches.
| Reference Key |
openalex_W7164387268
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | Jason Evan Liebowitz, Reid Weisberg, Yiyun Shi, Yiming Luo |
| Journal | Lara D. Veeken |
| Year | 2026 |
| DOI |
10.1093/rheumatology/keag299
|
| URL | |
| Keywords | Keywords not found |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.