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注意：仅列出部分参考文献，下载原文获取全部文献信息。How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)
Donald B. Kohn et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2017)
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients
Aisha V. Sauer et al.
SCIENTIFIC REPORTS (2017)
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency
Kathryn V. Whitmore et al.
FRONTIERS IN IMMUNOLOGY (2016)
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities
Stuart P. Adams et al.
CLINICAL IMMUNOLOGY (2015)
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency (vol 118, pg 2688, 2011)
R. Sokolic et al.
BLOOD (2014)
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency
Denise A. Carbonaro et al.
MOLECULAR THERAPY (2014)
Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID
Aisha V. Sauer et al.
BLOOD (2012)
Gene therapy/bone marrow transplantation in ADA-deficient mice: roles of enzyme-replacement therapy and cytoreduction
Denise A. Carbonaro et al.
BLOOD (2012)
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
Eyal Grunebaum et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency
Chimene Kesserwan et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
C. Booth et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2012)
Adenosine Deaminase Deficiency: Unanticipated Benefits from the Study of a Rare Immunodeficiency
Michael R. Blackburn et al.
JOURNAL OF IMMUNOLOGY (2012)
Dermatofibrosarcoma Protuberans in Children: an Update on the Diagnosis and Treatment
Rachel I. Kornik et al.
PEDIATRIC DERMATOLOGY (2012)
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency
Aisha Vanessa Sauer et al.
FRONTIERS IN IMMUNOLOGY (2012)
Imatinib Mesylate for Children With Dermatofibrosarcoma Protuberans (DFSP)
Saskia L. M. Gooskens et al.
PEDIATRIC BLOOD & CANCER (2010)
IMMUNE RECONSTITUTION AFTER GENE THERAPY (GTX) FOR ADENOSINE DEAMINASE DEFICIENT SEVERE COMBINED IMMUNE DEFICIENCY (ADA-SCID)
R. Sokolic et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2009)
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency
Benedicte Neven et al.
BLOOD (2009)
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome
Pietro Luigi Poliani et al.
BLOOD (2009)
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
Aisha V. Sauer et al.
BLOOD (2009)
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency
Evelina Mazzolari et al.
IMMUNOLOGIC RESEARCH (2009)
Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning
Niraj C. Patel et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)
Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency.
Alessandro Aiuti et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies
Penny Titman et al.
BLOOD (2008)
Neonatal bone marrow transplantation of ADA-deficient SCID mice results in immunologic reconstitution despite low levels of engraftment and an absence of selective donor T lymphoid expansion
Denise A. Carbonaro et al.
BLOOD (2008)
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients
Barbara Cassani et al.
BLOOD (2008)
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
Manfred Hoenig et al.
BLOOD (2007)
Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects
Alessandra Mortellaro et al.
BLOOD (2006)
In vivo transduction by intravenous injection of a lentiviral vector expressing human ADA into neonatal ADA gene knockout mice: A novel form of enzyme replacement therapy for ADA deficiency
Denise A. Carbonaro et al.
MOLECULAR THERAPY (2006)
CD26, adenosine deaminase, and adenosine receptors mediate costimulatory signals in the immunological synapse
R Pacheco et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Disorders of purine and pyrimidine metabolism
WL Nyhan
MOLECULAR GENETICS AND METABOLISM (2005)
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency
W Albuquerque et al.
JOURNAL OF PEDIATRICS (2004)
Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review
L Kalman et al.
GENETICS IN MEDICINE (2004)
Regulation of adenosine receptor engagement by ecto-adenosine deaminase
T Hashikawa et al.
FASEB JOURNAL (2004)
Physiological control of immune response and inflammatory tissue damage by hypoxia-inducible factors and adenosine A(2A) receptors
MV Sitkovsky et al.
ANNUAL REVIEW OF IMMUNOLOGY (2004)
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
RH Buckley
ANNUAL REVIEW OF IMMUNOLOGY (2004)
Impaired germinal center maturation in adenosine deaminase deficiency
MB Aldrich et al.
JOURNAL OF IMMUNOLOGY (2003)
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
MS Hershfield
CURRENT OPINION IN IMMUNOLOGY (2003)
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
LA Myers et al.
BLOOD (2002)
Adenosine-mediated bronchoconstriction and lung inflammation in an allergic mouse model
M Fan et al.
PULMONARY PHARMACOLOGY & THERAPEUTICS (2002)
CD26: A multifunctional integral membrane and secreted protein of activated lymphocytes
MD Gorrell et al.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY (2001)
Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
MH Rogers et al.
JOURNAL OF PEDIATRICS (2001)
Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling
SG Apasov et al.
JOURNAL OF CLINICAL INVESTIGATION (2001)
The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice - Differential impact on pulmonary and immunologic abnormalities
MR Blackburn et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction
MR Blackburn et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2000)
Function of murine adenosine deaminase in the gastrointestinal tract
PA Xu et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)
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