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A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

artículo científico publicado en 2002

A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation

artículo científico publicado en 2009

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

artículo científico publicado en 2016

A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories

artículo científico publicado en 2008

A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

artículo científico publicado en 2014

A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

artículo científico publicado en 2014

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

scientific article published on 02 September 2020

Adoptive Immunotherapy With CMV-specific Cytotoxic T Lymphocytes for Stem Cell Transplant Patients With Refractory CMV Infections ⬇️

artículo científico publicado el 1 de abril de 2012

Advancement of pediatric blood and marrow transplantation research in North America: priorities of the Pediatric Blood and Marrow Transplant Consortium

artículo científico publicado en 2010

Advances and highlights in primary immunodeficiencies in 2017

artículo científico publicado en 2018

Airway management in children with mucopolysaccharidoses

artículo científico publicado en 2009

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

artículo científico publicado en 2008

Allogeneic hematopoietic cell transplantation for refractory myasthenia gravis.

artículo científico publicado en 2009

Allograft and patient survival after sequential HSCT and kidney transplantation from the same donor-A multicenter analysis.

artículo científico publicado en 2018

Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency

scientific article published on 01 August 2018

Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression

artículo científico publicado en 2005

Association of busulfan exposure with survival and toxicity after haemopoietic cell transplantation in children and young adults: a multicentre, retrospective cohort analysis.

artículo científico publicado en 2016

B cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

artículo científico publicado en 2018

B7.2-/- mature dendritic cells generate T-helper 2 and regulatory T donor cells in fetal mice after in utero allogeneic bone marrow transplantation

artículo científico publicado en 2005

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

Busulfan, Fludarabine, and Alemtuzumab As a Reduced Toxicity Regimen for Children with Malignant and Nonmalignant Diseases Improves Engraftment and Graft-versus-Host Disease without Delaying Immune Reconstitution ⬇️

artículo científico publicado el 15 de mayo de 2012

Characterization of the Human Artemis Promoter by Heterologous Gene Expression In Vitro and In Vivo ⬇️

artículo científico publicado el 10 de junio de 2011

Chimerism-based pre-emptive immunotherapy with fast withdrawal of immunosuppression and donor lymphocyte infusions after allogeneic stem cell transplantation for pediatric hematologic malignancies

artículo científico publicado en 2015

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

artículo científico publicado en 2019

Chronic granulomatous disease: lessons from a rare disorder

artículo científico publicado en 2011

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation

artículo científico publicado en 2015

Combined umbilical cord blood and bone marrow from HLA-identical sibling donors for hematopoietic stem cell transplantation in children with hemoglobinopathies

artículo científico publicado en 2014

Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency.

artículo científico publicado en 2014

Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

artículo científico publicado en 2020

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 29 August 2020

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

artículo científico publicado en 2017

Cytotoxicity associated with artemis overexpression after lentiviral vector-mediated gene transfer

artículo científico publicado en 2010

Development of herpes simplex virus stomatitis during receipt of cidofovir therapy

artículo científico publicado en 2009

Devouring the Hematopoietic Stem Cell: Setting the Table for Marrow Cell Transplantation

artículo científico publicado en 2016

Donor lymphocyte infusion and methotrexate for immune recovery after T-cell depleted haploidentical transplantation.

artículo científico publicado en 2017

Effect of weight and maturation on busulfan clearance in infants and small children undergoing hematopoietic cell transplantation

artículo científico publicado en 2013

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

artículo científico publicado en 2013

Evaluation of Pre-Hematopoietic Cell Transplantation (HCT) Brain MRI and Neurologic Complications of Pediatric Patients Undergoing HCT for Hematologic Malignancies

artículo científico publicado en 2016

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

artículo científico publicado en 2020

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

artículo científico publicado en 2010

Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection

scientific article published on 13 December 2019

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

artículo científico publicado en 2011

HLA-matched sibling bone marrow transplantation for β-thalassemia major

artículo científico publicado en 2011

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

artículo científico publicado en 2020

Hematopoietic Stem Cell Transplantation Activity in Pediatric Cancer between 2008 and 2014 in the United States: A Center for International Blood and Marrow Transplant Research Report

artículo científico publicado en 2017

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency

artículo científico publicado en 2015

Hematopoietic cell transplant and use of massage for improved symptom management: results from a pilot randomized control trial

artículo científico publicado en 2012

Hematopoietic stem cell transplantation for CD3δ deficiency

artículo científico publicado en 2011

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

scientific article published on 17 January 2019

Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases

artículo científico publicado en 2008

Hepatic venoocclusive disease in blood and bone marrow transplantation in children and young adults: incidence, risk factors, and outcome in a cohort of 241 patients

artículo científico publicado en 2002

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

artículo científico publicado en 2011

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

artículo científico publicado en 2017

Immunization of hematopoietic stem cell transplant recipients against vaccine-preventable diseases ⬇️

artículo científico publicado el 1 de marzo de 2011

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

artículo científico publicado en 2009

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

scientific article published on 02 October 2020

Infusion of cytomegalovirus specific cytotoxic T lymphocytes from a sero-negative donor can facilitate resolution of infection and immune reconstitution.

artículo científico publicado en 2009

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

scientific article published on 01 April 2019

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency

artículo científico publicado en 2016

Long term outcomes of severe combined immunodeficiency: therapy implications.

artículo científico publicado en 2017

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

artículo científico publicado en 2011

Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism.

artículo científico publicado en 2012

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency

artículo científico publicado en 2019

Malignancies after Hematopoietic Cell Transplantation for Primary Immune Deficiencies: A Report from the Center for International Blood and Marrow Transplant Research ⬇️

artículo científico publicado el 20 de mayo de 2011

Massage for Children Undergoing Hematopoietic Cell Transplantation: A Qualitative Report ⬇️

artículo científico publicado el 23 de febrero de 2012

Maternal T-cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency

artículo científico publicado en 2008

Megadose CD34(+) cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation

artículo científico publicado en 2008

Multilineage engraftment with minimal graft-versus-host disease following in utero transplantation of S-59 psoralen/ultraviolet a light-treated, sensitized T cells and adult T cell-depleted bone marrow in fetal mice

artículo científico publicado en 2002

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

scientific journal article

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

artículo científico publicado en 2017

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

artículo científico publicado en 2015

Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening

artículo científico publicado en 2017

New Insights Into Multicenter PICU Mortality Among Pediatric Hematopoietic Stem Cell Transplant Patients.

artículo científico publicado en 2015

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017

artículo científico publicado en 2019

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years

artículo científico publicado en 2013

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

artículo científico publicado en 2014

Opening Marrow Niches in Patients Undergoing Autologous Hematopoietic Stem Cell Gene Therapy

artículo científico publicado en 2017

Outcome of domino hematopoietic stem cell transplantation in human subjects: An international case series

artículo científico publicado en 2018

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

artículo científico publicado en 2017

Pharmacokinetics and Model-Based Dosing to Optimize Fludarabine Therapy in Pediatric Hematopoietic Cell Transplant Recipients

artículo científico publicado en 2017

Population pharmacokinetics of busulfan in pediatric and young adult patients undergoing hematopoietic cell transplant: a model-based dosing algorithm for personalized therapy and implementation into routine clinical use.

artículo científico publicado en 2015

Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease

artículo científico publicado en 2002

Primary Immune Deficiency Treatment Consortium (PIDTC) report

artículo científico publicado en 2013

Primary Immune Deficiency Treatment Consortium (PIDTC) update

artículo científico publicado en 2016

Primary graft failure after umbilical cord blood transplant rescued by parental haplocompatible stem cell transplantation

artículo científico publicado en 2009

Processing of 3'-phosphoglycolate-terminated DNA double strand breaks by Artemis nuclease

artículo científico publicado en 2006

Psychosocial services for primary immunodeficiency disorder families during hematopoietic cell transplantation: A descriptive study

scientific article published on 01 August 2019

Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia: a Study of the Primary Immune Deficiency Consortium (PIDTC), Immune Deficiency Foundation, and the Wiskott-Aldrich Foundation

scientific article published on 16 October 2019

Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?

artículo científico publicado en 2015

Radiosensitive severe combined immunodeficiency disease

artículo científico publicado en 2010

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium

artículo científico publicado en 2017

Reduced Toxicity Conditioning for Non-Malignant Hematopoietic Cell Transplants

artículo científico publicado en 2020

Reduced-intensity conditioning regimens for allogeneic transplantation in children with acute lymphoblastic leukemia

artículo científico publicado en 2010

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

artículo científico publicado en 2017

Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency

artículo científico publicado en 2015

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

scientific article published on 28 August 2018

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

artículo científico publicado en 2013

Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia

artículo científico publicado en 2016

Simian immunodeficiency virus infection of hematopoietic stem cells and bone marrow stromal cells

artículo científico publicado en 2004

Stem cell transplantation for primary immunodeficiency diseases: the North American experience

artículo científico publicado en 2014

Successful SCID Gene Therapy in Infant with Disseminated BCG

scientific article published on 16 September 2020

Successful newborn screening for SCID in the Navajo Nation

artículo científico publicado en 2015

Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders

scientific article published on 25 October 2018

Survey on retransplantation criteria for patients with severe combined immunodeficiency.

artículo científico

T Cell and B Cell Immunity can be Reconstituted with Mismatched Hematopoietic Stem Cell Transplantation Without Alkylator Therapy in Artemis-Deficient Mice Using Anti-Natural Killer Cell Antibody and Photochemically Treated Sensitized Donor T Cells ⬇️

artículo científico publicado el 19 de octubre de 2011

Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation.

artículo científico publicado en 2005

The Primary Immune Deficiency Treatment Consortium: how can it improve definitive therapy for PID?

artículo científico publicado en 2016

The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell [...]

artículo científico publicado en 2016

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

scientific article published on 05 September 2018

The graft-versus-leukemia effect using matched unrelated donors is not superior to HLA-identical siblings for hematopoietic stem cell transplantation

artículo científico publicado en 2008

The missing vital sign ⬇️

artículo científico publicado el 5 de julio de 2013

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

artículo científico publicado en 2013

Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency

artículo científico publicado en 2016

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

artículo científico publicado en 2014

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

artículo científico publicado en 2017

Two-tiered universal newborn screening strategy for severe combined immunodeficiency

artículo científico publicado en 2005

Unknown Cytomegalovirus Serostatus in Primary Immunodeficiency Disorders: A New Category of Transplant Recipients

artículo científico publicado en 2020

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

artículo científico publicado en 2016

Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects

artículo científico

Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment

artículo científico publicado en 2009

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

artículo científico publicado en 2010

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