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Leukemia & Lymphoma Volume 64, 2023 - Issue 14
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Letters to the Editor

Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment

Katia Paciaronia UOSD Ematologia, ASL Roma 1, Roma, ItalyCorrespondence[email protected]
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,
Eugenio Sangiorgib Istituto di Medicina Genomica, Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, ItalyView further author information
,
Federica Pulvirentic Reference Centre for Primary Immune Deficiencies, Policlinico Umberto I, Rome, ItalyView further author information
,
Nicoletta Villivaa UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
,
Cristina Andrizzia UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
,
Selenia Campagnaa UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
,
Attilio Tordia UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
,
Francesca Celestia UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
,
Raffaele Mannad Istituto di Medicina Interna, Rare diseases and periodic Fevers Research Center, Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, ItalyView further author information
,
Fiorella Gurrierie Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, ItalyView further author information
,
Stefano Liccid Istituto di Medicina Interna, Rare diseases and periodic Fevers Research Center, Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, Italy;f Pathology Unit, San Filippo Neri Hospital, Rome, ItalyView further author information
&
Tommaso Caravita di Torittoa UOSD Ematologia, ASL Roma 1, Roma, ItalyView further author information
 show all
Pages 2343-2346 | Received 27 Mar 2023, Accepted 01 Sep 2023, Published online: 12 Sep 2023

References

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  • Papadaki HA, Pontikoglou C. Pathophysiologic mechanisms, clinical features and treatment of idiopathic neutropenia. Expert Rev Hematol. 2008;1(2):217–229. doi:10.1586/17474086.1.2.217
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  • Barron KS, Aksentijevich I, Deuitch NT, et al. The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort. Front Immunol. 2021;12:811473. doi:10.3389/fimmu.2021.811473
  • Signa S, Bertoni A, Penco F, et al. Adenosine Deaminase 2 Deficiency (DADA2): a crosstalk between innate and adaptive immunity. Front Immunol. 2022;13:935957. doi:10.3389/fimmu.2022.935957
  • Cooray S, Omyinmi E, Hong Y, et al. Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Rheumatology (Oxford). 2021;60(9):4373–4378. doi:10.1093/rheumatology/keaa837
  • Van Montfrans JM, Hartman EAR, Braun KPJ, et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford). 2016;55(5):902–910. doi:10.1093/rheumatology/kev439

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