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. 2023 Nov;43(8):1788-1791.
doi: 10.1007/s10875-023-01594-5. Epub 2023 Oct 3.

Novel ADA2 Variants in a Romanian Case Series of DADA2

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Novel ADA2 Variants in a Romanian Case Series of DADA2

Alexis Virgil Cochino et al. J Clin Immunol. 2023 Nov.
No abstract available

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References

    1. Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508–20. - DOI - PubMed
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    1. Lee PY, Huang Y, Zhou Q, et al. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. J Allergy Clin Immunol. 2018;142(4):1363-1365.e8. - DOI - PubMed - PMC
    1. Cochino AV, Ioan A, Farkas OM. Autoinflammatory diseases in Romanian children: a tertiary center case series study. JCR: J Clin Rheumatol. 2022;28(8):429–32. - PubMed
    1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20. - DOI - PubMed

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