2 results on '"Monica Abreu de Sousa"'
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2. Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients
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Elif Dokmeci, Keith Wilson, Selket Delafontaine, Federica Barzaghi, Simone Cesaro, Jennifer A. Kanakry, Despina Moshous, Sophie Hambleton, Robbert G. M. Bredius, Dimana Dimitrova, Mervi Taskinen, Florian Babor, İkbal Ok Bozkaya, Hasan Hashem, Robert A. Krance, Michael S. Hershfield, Nurten A. Akarsu, Seza Ozen, Polina Stepensky, David Boutboul, Ghadir S. Sasa, Joel P Brooks, Sandra Steinmann, Jignesh Dalal, Isabelle Meyts, Amy P. Hsu, Caroline Schnider, Dennis D. Hickstein, Yener Koc, Guillaume Le Guenno, Minna Koskenvuo, Chip Chambers, Tayfun Güngör, Maria Pia Cicalese, Fabio Candotti, Valentina Baretta, Steven M. Holland, Ingo Müller, Jasmeen Dara, Neven Benedicte, Giorgia Bucciol, Amanda K. Ombrello, Janna Saarela, Stephen Jolles, Ashish R Kumar, Sule Unal, Carrie L. Lucas, Leen Moens, Joris M. van Montfrans, Monica Abreu de Sousa, Ansgar Schulz, 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., HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, Clinicum, HUSLAB, Janna Saarela / Principal Investigator, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, and University of Helsinki
- Subjects
0301 basic medicine ,Adenosine Deaminase 2 Deficiency ,Male ,Adenosine Deaminase ,Graft vs Host Disease ,Kaplan-Meier Estimate ,PHENOTYPE ,Gastroenterology ,0302 clinical medicine ,Agammaglobulinemia ,hemic and lymphatic diseases ,Immunology and Allergy ,Child ,Immunodeficiency ,Hematopoietic cell transplantation ,Hematopoietic Stem Cell Transplantation ,Deficiency of adenosine deaminase 2 ,3. Good health ,Treatment Outcome ,Child, Preschool ,RESCUES ,Autoinflammation ,Intercellular Signaling Peptides and Proteins ,Female ,Original Article ,medicine.symptom ,VASCULOPATHY ,Life Sciences & Biomedicine ,Adult ,medicine.medical_specialty ,Adolescent ,DADA2 ,Immunology ,ADA2 DEFICIENCY ,Malignancy ,03 medical and health sciences ,Young Adult ,Bone marrow failure ,Inborn error of immunity ,Internal medicine ,medicine ,Humans ,Retrospective Studies ,030203 arthritis & rheumatology ,Cytopenia ,Science & Technology ,business.industry ,Polyarteritis nodosa ,Livedo racemosa ,Bone Marrow Failure Disorders ,medicine.disease ,Transplantation ,030104 developmental biology ,3121 General medicine, internal medicine and other clinical medicine ,Severe Combined Immunodeficiency ,business - 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.
- Published
- 2021
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