(Q43061574)

13 November 2017

title

Update on the management of the immunodeficiency in ataxia-telangiectasia (English)

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13 November 2017

E Graham Davies

1

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13 November 2017

publication date

1 September 2009

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Expert Review of Clinical Immunology

13 November 2017

published in

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13 November 2017

volume

5

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13 November 2017

issue

5

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13 November 2017

page(s)

565-575

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

13 November 2017

cites work

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

21 January 2018

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Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

21 January 2018

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ATR: an essential regulator of genome integrity

21 January 2018

1 reference

Environmental-induced oxidative stress in neurodegenerative disorders and aging

21 January 2018

1 reference

Cancer in ataxia-telangiectasia patients

21 January 2018

1 reference

Cancer risks and mortality in heterozygous ATM mutation carriers

21 January 2018

1 reference

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

21 January 2018

1 reference

Survival probability in ataxia telangiectasia.

21 January 2018

1 reference

Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity

21 January 2018

1 reference

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

21 January 2018

1 reference

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

21 January 2018

1 reference

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

21 January 2018

1 reference

Clinical spectrum of ataxia-telangiectasia in adulthood

21 January 2018

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Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

21 January 2018

1 reference

Lung disease in ataxia-telangiectasia

21 January 2018

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Immunodeficiency and infections in ataxia-telangiectasia.

21 January 2018

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Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia

21 January 2018

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Interstitial lung disease in patients with ataxia-telangiectasia.

21 January 2018

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Impact of oxidative stress on lung diseases

21 January 2018

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Ataxia telangiectasia with generalized skin pigmentation and early death

21 January 2018

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The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents

21 January 2018

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Neurodegenerative disorders associated with diabetes mellitus

21 January 2018

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Unusual and severe disease course in a child with ataxia-telangiectasia

21 January 2018

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Cutaneous granulomas associated with primary immunodeficiency disorders

21 January 2018

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Immunodeficiency-associated lymphomas

21 January 2018

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Epstein-Barr virus-associated smooth muscle tumors in ataxia-telangiectasia: a case report and review

21 January 2018

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Serum IgD concentrations in patients with ataxia telangiectasia and with selective IgA deficiency

21 January 2018

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Immunoglobulin E deficiency in ataxia-telangiectasia

21 January 2018

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Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.

21 January 2018

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Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia

21 January 2018

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Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia.

21 January 2018

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Low thymic output and reduced heterogeneity of alpha/beta, but not gamma/delta, T lymphocytes in infants with ataxia-telangiectasia

21 January 2018

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Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia.

21 January 2018

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The cytogenetics of ataxia telangiectasia

21 January 2018

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ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

21 January 2018

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ATM is required for efficient recombination between immunoglobulin switch regions

21 January 2018

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ATM controls c-Myc and DNA synthesis during postnatal thymocyte development through regulation of redox state.

21 January 2018

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Molecular linkage between the kinase ATM and NF-kappaB signaling in response to genotoxic stimuli

21 January 2018

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Consequences of the delayed diagnosis of ataxia-telangiectasia

21 January 2018

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Alpha fetoprotein is increasing with age in ataxia-telangiectasia

21 January 2018

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Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review

21 January 2018

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A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

21 January 2018

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Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes

21 January 2018

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Primary immunodeficiencies associated with pneumococcal disease

21 January 2018

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Potential therapy of Fc-antigen combination-encoding DNA vaccination in mouse allergic airway inflammation

21 January 2018

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Combined schedules of pneumococcal conjugate and polysaccharide vaccines: is hyporesponsiveness an issue?

21 January 2018

1 reference

Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial

21 January 2018

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Azithromycin alters macrophage phenotype

21 January 2018

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The comparison of the efficacy and safety of intravenous versus subcutaneous immunoglobulin replacement therapy

21 January 2018

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Pulmonary function in adolescents with ataxia telangiectasia.

21 January 2018

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Polysomnographic values in adolescents with ataxia telangiectasia

21 January 2018

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Safety and immunogenicity of CRM197-conjugated pneumococcal-meningococcal C combination vaccine (9vPnC-MnCC) whether given in two or three primary doses.

21 January 2018

1 reference

Safety and immunogenicity of three doses of an eleven-valent diphtheria toxoid and tetanus protein--conjugated pneumococcal vaccine in Filipino infants

21 January 2018

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Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant

21 January 2018

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Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia

21 January 2018

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Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients

21 January 2018

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Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

21 January 2018

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Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

21 January 2018

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Bone marrow transplantation restores immune system function and prevents lymphoma in Atm-deficient mice

21 January 2018

1 reference

Phase 1 trial of 13-valent pneumococcal conjugate vaccine in Japanese adults

21 January 2018

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Measles Immunization in HIV-Infected Children

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/ECI.09.35

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13 November 2017

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