Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency : Report on 30 Patients

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Hashem , H , Bucciol , G , Ozen , S , Unal , S , Bozkaya , I O , Akarsu , N , Taskinen , M , Koskenvuo , M , Saarela , J , Dimitrova , D , Hickstein , D D , Hsu , A P , Holland , S M , Krance , R , Sasa , G , Kumar , A R , Muller , I , de Sousa , M A , Delafontaine , S , Moens , L , Babor , F , Barzaghi , F , Cicalese , M P , Bredius , R , van Montfrans , J , Baretta , V , Cesaro , S , Stepensky , P , Benedicte , N , Moshous , D , Le Guenno , G , Boutboul , D , Dalal , J , Brooks , J P , Dokmeci , E , Dara , J , Lucas , C L , Hambleton , S , Wilson , K , Jolles , S , Koc , Y , Gungor , T , Schnider , C , Candotti , F , Steinmann , S , Schulz , A , Chambers , C , Hershfield , M , Ombrello , A , Kanakry , J A & Meyts , I 2021 , ' Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency : Report on 30 Patients ' , Journal of Clinical Immunology , vol. 41 , no. 7 , pp. 1633-1647 . https://doi.org/10.1007/s10875-021-01098-0

Title: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency : Report on 30 Patients
Author: Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Muller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Neven; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P.; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L.; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Gungor, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A.; Meyts, Isabelle
Contributor organization: HUS Children and Adolescents
Lastentautien yksikkö
Children's Hospital
Janna Saarela / Principal Investigator
Institute for Molecular Medicine Finland
Helsinki Institute of Life Science HiLIFE
University of Helsinki
Date: 2021-10
Language: eng
Number of pages: 15
Belongs to series: Journal of Clinical Immunology
ISSN: 0271-9142
DOI: https://doi.org/10.1007/s10875-021-01098-0
URI: http://hdl.handle.net/10138/340507
Abstract: Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF). Tumor necrosis factor (TNF-alpha) blockade is the treatment of choice for the vasculopathy, but often fails to reverse refractory cytopenia. We aimed to study the outcome of hematopoietic cell transplantation (HCT) in patients with DADA2. Methods We conducted a retrospective study on the outcome of HCT in patients with DADA2. The primary outcome was overall survival (OS). Results Thirty DADA2 patients from 12 countries received a total of 38 HCTs. The indications for HCT were BMF, immune cytopenia, malignancy, or immunodeficiency. Median age at HCT was 9 years (range: 2-28 years). The conditioning regimens for the final transplants were myeloablative (n = 20), reduced intensity (n = 8), or non-myeloablative (n = 2). Donors were HLA-matched related (n = 4), HLA-matched unrelated (n = 16), HLA-haploidentical (n = 2), or HLA-mismatched unrelated (n = 8). After a median follow-up of 2 years (range: 0.5-16 years), 2-year OS was 97%, and 2-year GvHD-free relapse-free survival was 73%. The hematological and immunological phenotypes resolved, and there were no new vascular events. Plasma ADA2 enzyme activity normalized in 16/17 patients tested. Six patients required more than one HCT. Conclusion HCT was an effective treatment for DADA2, successfully reversing the refractory cytopenia, as well as the vasculopathy and immunodeficiency. Clinical Implications HCT is a definitive cure for DADA2 with > 95% survival.
Subject: Hematopoietic cell transplantation
Deficiency of adenosine deaminase 2
Inborn error of immunity
Bone marrow failure
3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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