Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
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Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. / 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; Müller, Ingo; Abreu de Sousa, Monica ; 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; Güngör, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A; Meyts, Isabelle.
in: J CLIN IMMUNOL, Jahrgang 41, Nr. 7, 10.2021, S. 1633-1647.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
AU - Hashem, Hasan
AU - Bucciol, Giorgia
AU - Ozen, Seza
AU - Unal, Sule
AU - Bozkaya, Ikbal Ok
AU - Akarsu, Nurten
AU - Taskinen, Mervi
AU - Koskenvuo, Minna
AU - Saarela, Janna
AU - Dimitrova, Dimana
AU - Hickstein, Dennis D
AU - Hsu, Amy P
AU - Holland, Steven M
AU - Krance, Robert
AU - Sasa, Ghadir
AU - Kumar, Ashish R
AU - Müller, Ingo
AU - Abreu de Sousa, Monica
AU - Delafontaine, Selket
AU - Moens, Leen
AU - Babor, Florian
AU - Barzaghi, Federica
AU - Cicalese, Maria Pia
AU - Bredius, Robbert
AU - van Montfrans, Joris
AU - Baretta, Valentina
AU - Cesaro, Simone
AU - Stepensky, Polina
AU - Benedicte, Neven
AU - Moshous, Despina
AU - Le Guenno, Guillaume
AU - Boutboul, David
AU - Dalal, Jignesh
AU - Brooks, Joel P
AU - Dokmeci, Elif
AU - Dara, Jasmeen
AU - Lucas, Carrie L
AU - Hambleton, Sophie
AU - Wilson, Keith
AU - Jolles, Stephen
AU - Koc, Yener
AU - Güngör, Tayfun
AU - Schnider, Caroline
AU - Candotti, Fabio
AU - Steinmann, Sandra
AU - Schulz, Ansgar
AU - Chambers, Chip
AU - Hershfield, Michael
AU - Ombrello, Amanda
AU - Kanakry, Jennifer A
AU - Meyts, Isabelle
N1 - © 2021. The Author(s).
PY - 2021/10
Y1 - 2021/10
N2 - 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-α) 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.
AB - 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-α) 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.
U2 - 10.1007/s10875-021-01098-0
DO - 10.1007/s10875-021-01098-0
M3 - SCORING: Journal article
C2 - 34324127
VL - 41
SP - 1633
EP - 1647
JO - J CLIN IMMUNOL
JF - J CLIN IMMUNOL
SN - 0271-9142
IS - 7
ER -