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Appendix
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Literature
1.
go back to reference Caorsi R, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017;76(10):1648–56.CrossRef Caorsi R, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017;76(10):1648–56.CrossRef
2.
go back to reference Rama M, et al. A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. Eur J Hum Genet. 2018;26(7):960–71.CrossRef Rama M, et al. A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. Eur J Hum Genet. 2018;26(7):960–71.CrossRef
3.
go back to reference Schena F, et al. Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients. Eur J Immunol. 2021;51(1):206–19.CrossRef Schena F, et al. Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients. Eur J Immunol. 2021;51(1):206–19.CrossRef
4.
go back to reference Yap JY, et al. Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency. J Clin Immunol. 2021;41(8):1915–35.CrossRef Yap JY, et al. Intrinsic defects in B cell development and differentiation, T cell exhaustion and altered unconventional T cell generation characterize human adenosine deaminase type 2 deficiency. J Clin Immunol. 2021;41(8):1915–35.CrossRef
5.
go back to reference Carmona-Rivera C, et al. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. Blood. 2019;134(4):395–406.CrossRef Carmona-Rivera C, et al. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. Blood. 2019;134(4):395–406.CrossRef
Metadata
Title
Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?
Authors
Laura Moi
Caroline Schnider
Orbicia Riccio
Michael S. Hershfield
Fabio Candotti
Publication date
21-04-2022
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01271-z

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