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1.
J Oncol Pharm Pract ; : 10781552231171829, 2023 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-37357617

RESUMEN

INTRODUCTION: Filgrastim is used for the mobilization of stem cells in healthy donors. Though several biosimilar filgrastim products have been approved, there is limited literature evaluating biosimilar products for stem cell mobilization. Therefore, we conducted this study to compare the effectiveness of the original filgrastim, Neupogen®, to the biosimilar product, Nivestim®, for stem cell mobilization(SCM) in healthy donors. METHODS: This was a retrospective study that included all healthy donors: adults and pediatrics, who received Neupogen® or Nivestim® for stem cell mobilization between 2014 and 2016 at a comprehensive cancer center. Donors received filgrastim at a dose of 5 mcg/kg every 12 h for 4 days to achieve the target CD34 + cell count of 5-10 × 106 CD34 + /kg of recipient body weight. Additional doses of filgrastim were administered and/or the dose increased if target CD34 + was not achieved. The primary endpoint was the number of doses required to achieve the target CD34 + cell count. RESULTS: Over the study period, 89 donors received Neupogen® and 68 received Nivestim®. The median age of donors was 19.5 years (3-64) in the Nivestim® group and 15 years (2-16) in the Neupogen® group. The median number of doses required for SCM was eight doses (6-10) in the Nivestim group and eight (6-16) in the Neupogen® group. CONCLUSION: Biosimilar Nivestim® was as effective as the original, Neupogen®, for stem cell mobilization for healthy adult and pediatric donors. Larger randomized studies are necessary to evaluate the safety and transplant outcomes of the use of Nivestim®.

2.
Cancer ; 127(4): 609-618, 2021 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-33085090

RESUMEN

BACKGROUND: The association of community factors and outcomes after hematopoietic cell transplantation (HCT) has not been comprehensively described. Using the County Health Rankings and Roadmaps (CHRR) and the Center for International Blood and Marrow Transplant Research (CIBMTR), this study evaluated the impact of community health status on allogeneic HCT outcomes. METHODS: This study included 18,544 adult allogeneic HCT recipients reported to the CIBMTR by 170 US centers in 2014-2016. Sociodemographic, environmental, and community indicators were derived from the CHRR, an aggregate community risk score was created, and scores were assigned to each patient (patient community risk score [PCS]) and transplant center (center community risk score [CCS]). Higher scores indicated less healthy communities. The impact of PCS and CCS on patient outcomes after allogeneic HCT was studied. RESULTS: The median age was 55 years (range, 18-83 years). The median PCS was -0.21 (range, -1.37 to 2.10; standard deviation [SD], 0.42), and the median CCS was -0.13 (range, -1.04 to 0.96; SD, 0.40). In multivariable analyses, a higher PCS was associated with inferior survival (hazard ratio [HR] per 1 SD increase, 1.04; 99% CI, 1.00-1.08; P = .0089). Among hematologic malignancies, a tendency toward inferior survival was observed with a higher PCS (HR, 1.04; 99% CI, 1.00-1.08; P = .0102); a higher PCS was associated with higher nonrelapse mortality (NRM; HR, 1.08; 99% CI, 1.02-1.15; P = .0004). CCS was not significantly associated with survival, relapse, or NRM. CONCLUSIONS: Patients residing in counties with a worse community health status have inferior survival as a result of an increased risk of NRM after allogeneic HCT. There was no association between the community health status of the transplant center location and allogeneic HCT outcomes.


Asunto(s)
Planificación en Salud Comunitaria , Neoplasias Hematológicas/epidemiología , Trasplante de Células Madre Hematopoyéticas/estadística & datos numéricos , Trasplante Homólogo/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Neoplasias Hematológicas/patología , Neoplasias Hematológicas/terapia , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/epidemiología , Recurrencia Local de Neoplasia/terapia , Salud Pública/estadística & datos numéricos , Factores de Riesgo , Resultado del Tratamiento , Estados Unidos/epidemiología , Adulto Joven
3.
J Clin Immunol ; 41(8): 1754-1761, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34355352

RESUMEN

Haploidentical hematopoietic cell transplantation (HCT) is a valuable curative option for children with non-malignant diseases. Haploidentical HCT using post-transplant cyclophosphamide (PTCy) is a readily available option in the absence of an HLA-matched donor. We conducted a retrospective single-center study on the outcome of haploidentical HCT in children with non-malignant diseases. We gathered data from 44 patients underwent HCT in the period 2015 to 2020. The indications for HCT were bone marrow failure, primary immunodeficiency, metabolic disorders, and hemoglobinopathy. Median age at HCT was 4 years (range 0.7-20). The conditioning regimens were myeloablative (n = 17) or reduced intensity (n = 27). After a median follow-up of 20 months (range 4-71), 2-year overall survival was 89% and 2-year GvHD-free relapse-free survival (GRFS) was 66%. Incidence of primary graft failure was 13.6%. Cumulative incidence of grade II-IV acute and moderate/severe chronic GvHD were 20% and 6.4%, respectively. Younger age at HCT (< 4 years) and primary immunodeficiency were significantly associated with better GRFS (p < 0.05). In conclusion, haploidentical HCT using PTCy is feasible and curative in children with non-malignant diseases lacking an HLA-matched donor. Early diagnosis and referral in addition to timely treatment can further improve outcomes.


Asunto(s)
Ciclofosfamida/uso terapéutico , Trasplante de Células Madre Hematopoyéticas , Inmunosupresores/uso terapéutico , Trasplante Haploidéntico , Adolescente , Adulto , Niño , Preescolar , Femenino , Enfermedad Injerto contra Huésped , Enfermedades Hematológicas/terapia , Humanos , Lactante , Masculino , Enfermedades Metabólicas/terapia , Enfermedades de Inmunodeficiencia Primaria/terapia , Estudios Retrospectivos , Adulto Joven
4.
J Clin Immunol ; 41(7): 1633-1647, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34324127

RESUMEN

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.


Asunto(s)
Agammaglobulinemia/terapia , Trastornos de Fallo de la Médula Ósea/terapia , Trasplante de Células Madre Hematopoyéticas , Inmunodeficiencia Combinada Grave/terapia , Adenosina Desaminasa/deficiencia , Adolescente , Adulto , Agammaglobulinemia/enzimología , Agammaglobulinemia/genética , Agammaglobulinemia/mortalidad , Trastornos de Fallo de la Médula Ósea/enzimología , Trastornos de Fallo de la Médula Ósea/genética , Trastornos de Fallo de la Médula Ósea/mortalidad , Niño , Preescolar , Femenino , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/mortalidad , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Péptidos y Proteínas de Señalización Intercelular/deficiencia , Estimación de Kaplan-Meier , Masculino , Estudios Retrospectivos , Inmunodeficiencia Combinada Grave/enzimología , Inmunodeficiencia Combinada Grave/genética , Inmunodeficiencia Combinada Grave/mortalidad , Resultado del Tratamiento , Adulto Joven
5.
Pediatr Transplant ; 25(5): e13841, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32981203

RESUMEN

NCS is defined as reduced or absent sensation in the chin and lower lip within the distribution of the mental or inferior alveolar nerves. Although commonly associated with local trauma, NCS can indicate an underlying malignancy or can be the presenting symptom of cancer recurrence. We describe a 6-year-old female patient with AML and t(8,21) who underwent allogeneic HCT. Five months post-HCT, the patient presented with right-sided facial pain and numbness in her chin and lower lip consistent with NCS. Two weeks later, the patient had bone marrow relapse indicating AML recurrence. Although NCS remains a rare diagnosis especially in children, in the context of leukemia, it usually indicates an advanced disease or could be a sign of recurrence, and is commonly associated with grim prognosis. Further research is needed to study the link between NCS and specific cytogenetic abnormalities.


Asunto(s)
Mentón/inervación , Trasplante de Células Madre Hematopoyéticas , Hipoestesia/etiología , Leucemia Mieloide Aguda/terapia , Niño , Femenino , Humanos , Recurrencia , Síndrome
6.
Biol Blood Marrow Transplant ; 26(3): 553-561, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31726205

RESUMEN

Follow-up is integral for hematopoietic cell transplantation (HCT) care to ensure surveillance and intervention for complications. We characterized the incidence of and predictors for being lost to follow-up. Two-year survivors of first allogeneic HCT (10,367 adults and 3865 children) or autologous HCT (7291 adults and 467 children) for malignant/nonmalignant disorders between 2002 and 2013 reported to the Center for International Blood and Marrow Transplant Research were selected. The cumulative incidence of being lost to follow-up (defined as having missed 2 consecutive follow-up reporting periods) was calculated. Marginal Cox models (adjusted for center effect) were fit to evaluate predictors. The 10-year cumulative incidence of being lost to follow-up was 13% (95% confidence interval [CI], 12% to 14%) in adult allogeneic HCT survivors, 15% (95% CI, 14% to 16%) in adult autologous HCT survivors, 25% (95% CI, 24% to 27%) in pediatric allogeneic HCT survivors, and 24% (95% CI, 20% to 29%) in pediatric autologous HCT survivors. Factors associated with being lost to follow-up include younger age, nonmalignant disease, public/no insurance (reference: private), residence farther from the tranplantation center, and being unmarried in adult allogeneic HCT survivors; older age and testicular/germ cell tumor (reference: non-Hodgkin lymphoma) in adult autologous HCT survivors; older age, public/no insurance (reference: private), and nonmalignant disease in pediatric allogeneic HCT survivors; and older age in pediatric autologous HCT survivors. Follow-up focusing on minimizing attrition in high-risk groups is needed to ensure surveillance for late effects.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Adulto , Anciano , Niño , Estudios de Seguimiento , Humanos , Sobrevivientes , Acondicionamiento Pretrasplante , Trasplante Homólogo
7.
Biol Blood Marrow Transplant ; 25(9): 1779-1785, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31085304

RESUMEN

Allogeneic hematopoietic cell transplantation (HCT) remains the definite cure for many pediatric hematologic diseases but causes profound deconditioning, which impairs daily physical functioning and may lead to further health complications. The Transplant Energize Me Patient Outcome (TEMPO) project is a standard-of-care, quality improvement (QI) project whose primary objective is to maintain physical functional mobility and strength throughout admission for pediatric allogeneic HCT patients. Specifically, TEMPO incorporates individualized and developmentally appropriate exercises and activities that are administered by a multidisciplinary team, who objectively measure and record a patient's physical stamina at predetermined frequencies. Discipline-specific metrics at admission, at weekly intervals, at discharge, and at 100 days after graft infusion (D100) are recorded in templated flowsheets in the electronic medical record. As a secondary objective, resource utilization as measured by length of stay, duration of parenteral feeds and narcotics, readmission by D100, and infections was compared between TEMPO and historical control (pre-TEMPO) allogeneic HCT patients. TEMPO participation maintained physical endurance and functional strength throughout hospitalization, an effect that was significantly sustained or improved at D100. Resource utilization did not significantly differ between patient cohorts. Taken together, the TEMPO QI Project maintains physical functional mobility, strength, and endurance, thereby decreasing physical deconditioning in pediatric allogeneic HCT patients, an effect that is objectively sustained at D100.


Asunto(s)
Enfermedad Injerto contra Huésped , Fuerza de la Mano , Trasplante de Células Madre Hematopoyéticas , Mejoramiento de la Calidad , Acondicionamiento Pretrasplante , Adolescente , Adulto , Aloinjertos , Niño , Preescolar , Femenino , Enfermedad Injerto contra Huésped/fisiopatología , Enfermedad Injerto contra Huésped/prevención & control , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
8.
Biol Blood Marrow Transplant ; 25(2): 301-306, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30244103

RESUMEN

Children with acute leukemia who relapse after hematopoietic cell transplantation (HCT) have few therapeutic options. We studied 251 children and young adults with acute myelogenous or lymphoblastic leukemia who underwent a second HCT for relapse after their first HCT. The median age at second HCT was 11 years, and the median interval between first and second HCT was 17 months. Most of the patients (n = 187; 75%) were in remission, received a myeloablative conditioning regimen (n = 157; 63%), and underwent unrelated donor HCT (n = 230; 92%). The 2-year probability of leukemia-free survival (LFS) was 33% after transplantation in patients in remission, compared with 19% after transplantation in patients not in remission (P = .02). The corresponding 8-year probabilities were 24% and 10% (P = .003). A higher rate of relapse contributed to the difference in LFS. The 2-year probability of relapse after transplantation was 42% in patients in remission and 56% in those in relapse (P = .05). The corresponding 8-year probabilities were 49% and 64% (P = .04). These data extend the findings of others showing that patients with a low disease burden are more likely to benefit from a second transplantation. Late relapse led to a 10% decrement in LFS beyond the second year after second HCT. This differs from first HCT, in which most relapses occur within 2 years after HCT.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Leucemia/mortalidad , Leucemia/terapia , Enfermedad Aguda , Adolescente , Adulto , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Humanos , Lactante , Masculino , Recurrencia , Tasa de Supervivencia , Factores de Tiempo , Adulto Joven
9.
Blood ; 130(24): 2682-2688, 2017 12 14.
Artículo en Inglés | MEDLINE | ID: mdl-28974505

RESUMEN

Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency and bone marrow failure. Tumor necrosis factor-α blockade is the treatment of choice for the autoinflammation and vascular manifestations. Hematopoietic stem cell transplantation (HSCT) represents a potential definitive treatment. We present a cohort of 14 patients from 6 countries who received HSCT for DADA2. Indication for HSCT was bone marrow dysfunction or immunodeficiency. Six of 14 patients had vasculitis pre-HSCT. The median age at HSCT was 7.5 years. Conditioning regimens were myeloablative (9) and reduced intensity (5). Donors were HLA-matched sibling (n = 1), HLA-matched unrelated (n = 9), HLA-mismatched unrelated (n = 3), and HLA haploidentical sibling (n = 1). All patients are alive and well with no new vascular events and resolution of hematological and immunological phenotype at a median follow-up of 18 months (range, 5 months to 13 years). Plasma ADA2 enzyme activity normalized in those tested post-HSCT (7/7), as early as day +14 (myeloid engraftment). Post-HSCT hematological autoimmunity (cytopenias) was reported in 4 patients, acute graft-versus-host disease grade 1 in 2, grade 2 in 3, and grade 3-4 in 1, and moderate chronic graft-versus-host disease in 1 patient. In conclusion, in 14 patients, HSCT was an effective and definitive treatment of DADA2.


Asunto(s)
Adenosina Desaminasa/genética , Trasplante de Células Madre Hematopoyéticas/métodos , Síndromes de Inmunodeficiencia/genética , Síndromes de Inmunodeficiencia/terapia , Péptidos y Proteínas de Señalización Intercelular/genética , Mutación , Adenosina Desaminasa/sangre , Adenosina Desaminasa/metabolismo , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/etiología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Síndromes de Inmunodeficiencia/enzimología , Lactante , Recién Nacido , Péptidos y Proteínas de Señalización Intercelular/sangre , Péptidos y Proteínas de Señalización Intercelular/metabolismo , Masculino , Fenotipo , Acondicionamiento Pretrasplante/métodos
11.
Pediatr Transplant ; 22(2)2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29388370

RESUMEN

Maintaining fluid balance, pre- and post-MA-HCT is essential and usually requires frequent administration of diuretics. Hepatic sinusoidal obstructive syndrome is potentially life-threatening, especially when associated with AKI and MOF. This study describes six patients who developed AKI-associated SOS and diuretic-resistant FO who subsequently underwent CRRT using standardized management guidelines for fluid balance post-HCT. Retrospective chart review was done for HCT patients between September 2011 and October 2013 at a tertiary care children's hospital. Thirty-four patients underwent MA-HCT in the study period. Six patients had SOS complicated by diuretic-resistant FO and underwent CRRT. Defibrotide was used in three patients. Median time on CRRT was 10.5 days. Sixty-six percent (N = 4 of 6) of patients had full resolution of SOS symptoms with a mortality rate of 34% (N = 2 of 6). Among patients who had full recovery of SOS symptoms, one patient developed AKI, end-stage renal diseases and underwent kidney transplantation 34-months post-HCT. Thus, of six included patients, two died and one developed ESRD with only 50% (N = 3 of 6) good outcome. Use of a standardized, evidence-based fluid balance protocol and early initiation of CRRT for HCT-related AKI/SOS was associated with good outcomes.


Asunto(s)
Lesión Renal Aguda/terapia , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedad Veno-Oclusiva Hepática/terapia , Terapia de Reemplazo Renal/métodos , Lesión Renal Aguda/etiología , Adolescente , Adulto , Niño , Preescolar , Femenino , Enfermedad Veno-Oclusiva Hepática/etiología , Humanos , Masculino , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
14.
J Neurooncol ; 132(3): 427-432, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28290001

RESUMEN

Choroid plexus tumors (CPT) are rare neoplasms accounting for 1-4% of all pediatric brain tumors. They are divided into choroid plexus papilloma (CPP), atypical choroid plexus papilloma (APP) and choroid plexus carcinoma (CPC). CPTs are known to primarily affect children less than 2 years of age. Gross total resection is the most important predictor of survival especially in CPC. Although small case series have been published, limited clinical data are available to describe treatment and outcome of CPTs. More clinical data would be necessary to complete the picture, particularly in populations that are not age limited. Here we share data from the two major hospitals in Cleveland to describe treatment and outcome of adult and pediatric patients. We performed a retrospective analysis of patients with CPT seen in Cleveland Clinic from 1990 to 2015 and at University Hospitals from 1994 to 2015. Results were compared to previously published historical controls. We identified 30 cases with CPT, including 22 pediatric and eight adult cases; 11 females and 19 males. The mean age at presentation was 12.4 years with a median age of 4.5 years (range 2 months-51 years). Gross total surgical resection was achieved in 22, subtotal resection in four, partial resection in two and unknown in two. The histology was CPP in 23 patients, two of whom developed recurrence requiring repeat resection and adjuvant therapy. Median event free survival (EFS) for CPP patients was 7.6 years. The histology was CPC in seven patients. All CPC patients were treated with adjuvant therapy. Median EFS of CPC patients was 4.4 years. Overall survival of all CPT patients was 100% with a median follow up of 7 years. A systematic literature review identified 1012 CPT patients treated from 1989 to 2013. The mean and median age of CPT patients was 13 and 3 years respectively. The median survival of 541 CPP patients was undefined vs. 2.7 years for the 452 CPC patients. The difference between the two populations was highly significant (p < 0.001). Kaplan-Meier survival curves comparing CPTs at Cleveland Clinic and University Hospitals versus a systematic literature review showed a statistically significant advancement in overall survival among the patients treated at Cleveland Clinic and University Hospitals. Our data are consistent with the literature review regarding epidemiology, clinical presentation, and treatment modalities but differed in regards to survival. Differences in survival may be related to different methods of data collection or details in patient care.


Asunto(s)
Carcinoma/patología , Carcinoma/terapia , Neoplasias del Plexo Coroideo/patología , Neoplasias del Plexo Coroideo/terapia , Papiloma del Plexo Coroideo/patología , Papiloma del Plexo Coroideo/terapia , Adolescente , Adulto , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Hospitales Universitarios , Humanos , Lactante , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Papiloma del Plexo Coroideo/mortalidad , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
15.
Pediatr Blood Cancer ; 64(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28696061

RESUMEN

BACKGROUND: Aplastic anemia is a bone marrow failure syndrome with high mortality affecting children and young adults. Although current treatment guidelines recommend hematopoietic stem cell transplant (HCT) for patients with matched sibling donors, outcomes with alternate donor options have been improving. PROCEDURE: We analyzed a validated multiinstitutional pediatric cohort using one of the largest pediatric and young adult database, the Pediatric Health Information System, for patients diagnosed with aplastic anemia (AA) from 2006 to 2015. Outcomes with upfront and salvage transplants were analyzed along with healthcare utilization. RESULTS: Among 2,169 patients in the study period, almost 20% underwent HCT, while others received immunosuppressive therapy. In a multivariate model, there was no significant difference in mortality with upfront or salvage transplants (odds ratio [OR] 1.24, 95% confidence interval [CI] 0.6-2.58, P = 0.567), while every platelet transfusion was associated with higher mortality (OR 1.37, 95% CI 1.12-1.67, P = 0.002). Healthcare utilization was significantly higher in salvage transplants requiring frequent hospitalization and transfusion requirements. Treatment mortality and graft failure rates were significantly reduced in the salvage transplant group in recent years (2011-2015 as compared to 2006-2010). CONCLUSION: As outcomes with HCT continue to improve in severe AA, transplant with good alternate donors should be considered upfront in children and young adults.


Asunto(s)
Anemia Aplásica/terapia , Atención a la Salud/estadística & datos numéricos , Adolescente , Anemia Aplásica/mortalidad , Niño , Preescolar , Femenino , Trasplante de Células Madre Hematopoyéticas , Humanos , Inmunosupresores/uso terapéutico , Lactante , Masculino , Transfusión de Plaquetas , Adulto Joven
16.
Curr Rheumatol Rep ; 19(11): 70, 2017 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-28983775

RESUMEN

PURPOSE OF REVIEW: A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RECENT FINDINGS: DADA2 was first described in patients with systemic inflammation, mild immune deficiency, and vasculopathy manifested as recurrent stroke or polyarteritis nodosa (PAN). More than 125 patients have now been reported, and the phenotype has expanded to include children and adults presenting primarily with pure red cell aplasia (PRCA), or with antibody deficiency. Age of onset and clinical severity vary widely, even among related patients, and are not clearly related to CECR1 genotype. Inflammatory features often respond to anti-TNF agents, but marrow failure and severe immune deficiency may require hematopoietic stem cell transplantation. ADA2 is expressed and secreted by monocytes and macrophages, but its biological function and the pathogenesis of DADA2 are uncertain and will remain an important area of research. Pre-clinical investigation of ADA2 replacement therapy and CECR1-directed gene therapy are warranted, but complicated by the absence of a suitable animal model.


Asunto(s)
Adenosina Desaminasa/genética , Predisposición Genética a la Enfermedad , Péptidos y Proteínas de Señalización Intercelular/genética , Poliarteritis Nudosa/genética , Enfermedades Reumáticas/genética , Humanos , Mutación , Fenotipo
17.
Pediatr Transplant ; 21(2)2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27976488

RESUMEN

HCT is the definitive therapy for patients with FA and AML. Conventional cytotoxic agents cause potential DNA damage, and currently, there is no established regimen for these patients prior to HCT. A 13-year-old male with FA and refractory AML was given azacitidine, achieved morphologic remission and underwent HCT. At 95 days after HCT, he relapsed. Azacitidine along with DLI was used as first salvage therapy. Azacitidine was overall well tolerated with minimal side effects. In patients with AML and FA, azacitidine can be considered an alternative to conventional chemotherapy.


Asunto(s)
Azacitidina/uso terapéutico , Anemia de Fanconi/complicaciones , Anemia de Fanconi/terapia , Trasplante de Células Madre Hematopoyéticas , Leucemia Mieloide Aguda/complicaciones , Leucemia Mieloide Aguda/terapia , Adolescente , Citotoxinas/uso terapéutico , Daño del ADN , Enfermedad Injerto contra Huésped/etiología , Humanos , Masculino , Inducción de Remisión , Acondicionamiento Pretrasplante , Trasplante Homólogo , Resultado del Tratamiento
19.
J Pediatr Hematol Oncol ; 39(5): e293-e296, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28230570

RESUMEN

Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2. We also review the literature on DADA2. This report will help raise awareness of physicians for this complex disease.


Asunto(s)
Adenosina Desaminasa/deficiencia , Péptidos y Proteínas de Señalización Intercelular/deficiencia , Aplasia Pura de Células Rojas/diagnóstico , Inmunodeficiencia Combinada Grave/diagnóstico , Trasplante de Médula Ósea/métodos , Preescolar , Diagnóstico Diferencial , Humanos , Masculino , Aplasia Pura de Células Rojas/complicaciones , Análisis de Secuencia de ADN
20.
Biol Blood Marrow Transplant ; 21(4): 612-9, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25230381

RESUMEN

Double umbilical cord blood transplantation (UCBT) was developed as a strategy to circumvent the cell dose limitation of single UCBT with a concomitant potential benefit of lowering the rate of leukemia relapse. Sustained hematopoiesis after double UCBT usually is derived from a single donor unit, as only a few patients have been reported to display stable mixed-unit chimerism for varying periods of time. Explanations for the 1 unit dominance, predictors for identifying unit superiority, and persistence of long-term mixed-unit chimerism remain elusive. Review of published literature revealed only 11 of 280 patients (4%) with mixed-unit chimerism for at least 1 year after transplantation, with 3 patients receiving reduced-intensity conditioning regimens. Mixed-unit chimerism was more likely if both units were closely HLA matched to each other. Outcome data for patients with stable mixed-unit chimerism, for the most part, were scarcely reported. Analysis of the small sample size revealed a potential advantage of stable mixed-unit chimerism on enhancing the graft-versus-leukemia effect; however, definitive conclusions cannot be made on the effect of mixed-unit chimerism on the rates of graft-versus-host disease. Therefore, gathering outcome data prospectively in larger clinical series will help answer the question of whether stable mixed-unit chimerism is either beneficial and, therefore, should be strived for, detrimental and, thus, needs to be eliminated, or if it is of no clinical consequence.


Asunto(s)
Trasplante de Células Madre de Sangre del Cordón Umbilical , Enfermedad Injerto contra Huésped , Efecto Injerto vs Leucemia , Antígenos HLA , Quimera por Trasplante , Aloinjertos , Humanos
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