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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, Vol. 41, No. 7, 10.2021, p. 1633-1647.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

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

APA

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., Müller, I., Abreu de Sousa, M., Delafontaine, S., ... Meyts, I. (2021). Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. J CLIN IMMUNOL, 41(7), 1633-1647. https://doi.org/10.1007/s10875-021-01098-0

Vancouver

Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N et al. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. J CLIN IMMUNOL. 2021 Oct;41(7):1633-1647. https://doi.org/10.1007/s10875-021-01098-0

Bibtex

@article{678badcd75834804997761952e040a38,
title = "Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients",
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-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.",
author = "Hasan Hashem and Giorgia Bucciol and Seza Ozen and Sule Unal and Bozkaya, {Ikbal Ok} and Nurten Akarsu and Mervi Taskinen and Minna Koskenvuo and Janna Saarela and Dimana Dimitrova and Hickstein, {Dennis D} and Hsu, {Amy P} and Holland, {Steven M} and Robert Krance and Ghadir Sasa and Kumar, {Ashish R} and Ingo M{\"u}ller and {Abreu de Sousa}, Monica and Selket Delafontaine and Leen Moens and Florian Babor and Federica Barzaghi and Cicalese, {Maria Pia} and Robbert Bredius and {van Montfrans}, Joris and Valentina Baretta and Simone Cesaro and Polina Stepensky and Neven Benedicte and Despina Moshous and {Le Guenno}, Guillaume and David Boutboul and Jignesh Dalal and Brooks, {Joel P} and Elif Dokmeci and Jasmeen Dara and Lucas, {Carrie L} and Sophie Hambleton and Keith Wilson and Stephen Jolles and Yener Koc and Tayfun G{\"u}ng{\"o}r and Caroline Schnider and Fabio Candotti and Sandra Steinmann and Ansgar Schulz and Chip Chambers and Michael Hershfield and Amanda Ombrello and Kanakry, {Jennifer A} and Isabelle Meyts",
note = "{\textcopyright} 2021. The Author(s).",
year = "2021",
month = oct,
doi = "10.1007/s10875-021-01098-0",
language = "English",
volume = "41",
pages = "1633--1647",
journal = "J CLIN IMMUNOL",
issn = "0271-9142",
publisher = "Springer New York",
number = "7",

}

RIS

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 -