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01-07-2021 | Erythrocyte Transfusion | Letter to Editor

Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency

Authors: Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A. Schroeder, Giancarlo la Marca, Michael H. Albert, Fabian Hauck

Published in: Journal of Clinical Immunology | Issue 5/2021

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To the Editor, …

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Rich KC, Majias E, Fox IH. Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions. N Engl J Med. 1980;303:973–7. https://doi.org/10.1056/NEJM198010233031705.CrossRefPubMed

Staal GE, Stoop JW, Zegers BJ, Siegenbeek van Heukelom LH, van der Vlist MJ, Wadman SK, et al. Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes. J Clin Invest. 1980;65:103–8. https://doi.org/10.1172/JCI109639.CrossRefPubMedPubMedCentral

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, et al. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J Allergy Clin Immunol. 2014;134:155–9. https://doi.org/10.1016/j.jaci.2014.01.040.CrossRefPubMed

Kleijer WJ, Hussaarts-Odijk LM, Los FJ, Pijpers L, de Bree PK, Duran M. Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy. Prenat Diagn. 1989;9:401–7. https://doi.org/10.1002/pd.1970090605.CrossRefPubMed

Singh V. Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells. JIMD Rep. 2012;6:39–42. https://doi.org/10.1007/8904_2012_126.CrossRefPubMedPubMedCentral

Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J. Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr. 2004;145:710–2. https://doi.org/10.1016/j.jpeds.2004.06.075.CrossRefPubMed

Schejter YD, Even-Or E, Shadur B, NaserEddin A, Stepensky P, Zaidman I. The broad clinical spectrum and transplant results of PNP deficiency. J Clin Immunol. 2020;40:123–30. https://doi.org/10.1007/s10875-019-00698-1.CrossRefPubMed

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Boskabadi HMM. Evaluation of the severity and duration of thrombocytopenia following exchange transfusion in neonatal hyperbilirubinemia. Iran J Ped Hematol Oncol. 2019;9:91–7. https://doi.org/10.18502/ijpho.v9i2.608.CrossRef

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Chcacham SKJ, Dutta S, Kumar P. Adverse events following blood exchange transfusion for neonatal hyperbilirubinemia: a prospective study. Journal of Clinical Neonatology. 2019;8:79–84.CrossRef

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Title: Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency
Authors: Anna Eichinger
Horst von Bernuth
Cinzia Dedieu
Sebastian A. Schroeder
Giancarlo la Marca
Michael H. Albert
Fabian Hauck
Publication date: 01-07-2021
Publisher: Springer US
Keyword: Erythrocyte Transfusion
Published in: Journal of Clinical Immunology / Issue 5/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-01003-9

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