SynthesisBiomedica : revista del Instituto Nacional de Salud2024
Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Synthesis in Biomedica : revista del Instituto Nacional de Salud, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?British journal of haematology · 2026Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review. The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis. The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.
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