Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 41(7): 1633-1647, 2021 10.
Article
en En
| MEDLINE
| ID: mdl-34324127
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Inmunodeficiencia Combinada Grave
/
Trasplante de Células Madre Hematopoyéticas
/
Agammaglobulinemia
/
Trastornos de Fallo de la Médula Ósea
Tipo de estudio:
Etiology_studies
/
Observational_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
J Clin Immunol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Jordania