Novel pathogenic ADA2 mutations: alert to diagnosis challenge of ADA2 deficiency
- PMID: 36891360
- PMCID: PMC9986784
- DOI: 10.21037/tp-23-2
Novel pathogenic ADA2 mutations: alert to diagnosis challenge of ADA2 deficiency
Keywords: ADA2 deficiency; Novel pathogenic mutations; diagnosis.
Conflict of interest statement
Conflicts of Interest: Both authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-23-2/coif). The authors have no conflicts of interest to declare.
Comment on
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ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report.Transl Pediatr. 2023 Jan 31;12(1):97-103. doi: 10.21037/tp-22-261. Epub 2022 Dec 28. Transl Pediatr. 2023. PMID: 36798931 Free PMC article.
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