ArticleFrontiers in immunology2022
Autoimmunity in monogenic combined immune deficiencies with associated or syndromic features.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2025Article
- Editorial: Immune evasion mechanisms and their role in the pathogenesis of autoimmune disorders.Frontiers in immunology · 2023Article
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Authors and funding
23 authors at 10 institutions in 2 countries.
Funding
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Abstract
Background: Combined immune deficiencies (CIDs) with associated or syndromic features are a highly heterogeneous subgroup of inherited immune disorders. These patients represent specific clinical complications with an increased risk of autoimmune conditions. Methods: We analyzed data of monogenic patients with syndromic CIDs adopted from the Iranian inborn errors of immunity registry up to January 2022. A comprehensive comparison in terms of demographic, clinical, and immunological features was performed between patients with and without autoimmunity and also among four mutation groups with the most registered cases including Results: A total of 137 patients with monogenic syndromic CIDs were included. Most commonly mutated genes were the Conclusion: About 18% of patients with monogenic syndromic CIDs developed autoimmunity, mainly in the form of hematological immune diseases. Autoimmunity could be an early-onset involvement with a potential diagnostic impact on suspicious cases of syndromic CIDs.
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