Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience

Article Immunology

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Emilia Cirillo et al.

Summary: This study investigated the disease characteristics and genotype-phenotype correlation in an Italian cohort of AT patients and found that lymphopenia and specific genotypes are associated with poorer clinical outcomes.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

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Review Multidisciplinary Sciences

The natural history of ataxia-telangiectasia (A-T): A systematic review

Emily Petley et al.

Summary: This review investigates the natural history of ataxia-telangiectasia (A-T) and confirms that neurological symptoms are the most common presenting features in classical A-T, while variants have diverse manifestations. Most patients have a limited lifespan, typically confined to teenage or early adulthood.

PLOS ONE (2022)

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Review Biochemistry & Molecular Biology

Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia

Goutham Narayanan Subramanian et al.

Summary: The ATM protein kinase has diverse functions in the cell, including protecting DNA, maintaining cellular homeostasis, and safeguarding against external and internal damage.

ANTIOXIDANTS (2022)

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Article Immunology

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients

Parisa Amirifar et al.

Summary: The study aimed to investigate class switch recombination in A-T patients, finding that patients with high IgM levels showed significantly increased rates of respiratory infections and noninfectious complications, with disruptions in their immune responses.

IMMUNOLOGICAL INVESTIGATIONS (2021)

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Review Health Care Sciences & Services

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Sharon A. McGrath-Morrow et al.

Summary: Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive ataxia, oculocutaneous telangiectasias, and immune system impairment. Patients with A-T have an increased risk of malignancy, leading to premature death.

JOURNAL OF MULTIDISCIPLINARY HEALTHCARE (2021)

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Article Immunology

Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia

Tannaz Moeini Shad et al.

Summary: Patients with AT exhibit a wide range of cellular and humoral deficiencies, including significant alterations in B and T cell subsets, as well as impaired cell proliferation capabilities. CSR defects further exacerbate these abnormalities.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Article Virology

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

Ana Mendez-Echevarria et al.

Summary: The study found that patients with A-T are more likely to present symptomatic viral infections compared to controls, especially those with lower IgA and higher IgM levels, as well as increased CD8+ cell counts.

VIRUSES-BASEL (2021)

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Article Immunology

TREC/KREC levels in children with ataxia-telangiectasia

Oksana Boyarchuk et al.

Summary: The study aimed to determine TREC/KREC levels in patients with AT for early diagnosis. It found that TREC and KREC levels were significantly lower in AT patients, with a positive correlation between TREC levels and CD4 absolute values. This suggests that measuring TREC/KREC levels could facilitate early detection of AT and improve patient outcomes.

IMMUNOLOGIC RESEARCH (2021)

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Review Biochemistry & Molecular Biology

Evasion of the Host Immune Response by Betaherpesviruses

Daniel G. Sausen et al.

Summary: The human immune system has diverse strategies to recognize and eliminate invading pathogens, while betaherpesviruses have evolved mechanisms to evade host immune responses. This review focuses on the complex interactions between viruses and the human immune system, as well as how viruses evade immune responses and recent advancements in vaccine technology.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Immunology

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Stefan Zielen et al.

Summary: The study analyzed mortality and immunity data of patients with ataxia-telangiectasia (A-T) in relation to IgA deficiency, finding that patients with IgA deficiency have significantly lower survival rates, lymphocyte counts, and subsets compared to A-T patients without IgA deficiency. This suggests that IgA deficiency may indicate a poorer prognosis for classical A-T patients.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Review Cell Biology

Cellular functions of the protein kinase ATM and their relevance to human disease

Ji-Hoon Lee et al.

Summary: Deficiency in the protein kinase ATM - a master regulator of double-strand DNA breaks and stress responses - causes ataxia telangiectasia (A-T). Recent studies link A-T with other neurodegenerative disorders, and implicate reactive oxygen species, mitochondrial dysfunction, defects in proteostasis and metabolism, and increased poly(ADP-ribosyl)ation in the aetiology of A-T.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2021)

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Review Genetics & Heredity

ATM's Role in the Repair of DNA Double-Strand Breaks

Atsushi Shibata et al.

Summary: ATM is a central kinase that activates a wide range of responses to cellular stress through signaling. It plays multiple roles in response to DNA damage, particularly focusing on DSB repair. Dysfunction in stress responses impairs repair accuracy, leading to dramatic sensitivity to ionizing radiation in ataxia telangiectasia (A-T) cells.

GENES (2021)

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Article Immunology

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Aziz Bousfiha et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

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Article Pathology

Ataxia telangiectasia mutated pathway disruption affects hepatic DNA and tissue damage in nonalcoholic fatty liver disease

Preeti Viswanathan et al.

EXPERIMENTAL AND MOLECULAR PATHOLOGY (2020)

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Review Biochemistry & Molecular Biology

Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species

Ji-Hoon Lee et al.

REDOX BIOLOGY (2020)

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Article Immunology

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

M. Dasouki et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2020)

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Article Pediatrics

Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study

Helena Donath et al.

FRONTIERS IN PEDIATRICS (2020)

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Article Pediatrics

Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report

Aleksandra Szczawinska-Poplonyk et al.

FRONTIERS IN PEDIATRICS (2020)

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Article Allergy

Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study

Aleksandra Szczawinka-Poplonyk et al.

POSTEPY DERMATOLOGII I ALERGOLOGII (2020)

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Article Immunology

Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome

Mateusz Maciejczyk et al.

FRONTIERS IN IMMUNOLOGY (2019)

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Article Pediatrics

Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia

Anna K. Meyer et al.

FRONTIERS IN PEDIATRICS (2019)

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Article Pediatrics

Progressive Liver Disease in Patients With Ataxia Telangiectasia

Helena Donath et al.

FRONTIERS IN PEDIATRICS (2019)

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Review Immunology

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

Moussab Tatfi et al.

FRONTIERS IN IMMUNOLOGY (2019)

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Article Pediatrics

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia

Alexander Krauthammer et al.

BMC PEDIATRICS (2018)

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Review Clinical Neurology

More than ataxia - Movement disorders in ataxia-telangiectasia

Helio Afonso Ghizoni Teive et al.

PARKINSONISM & RELATED DISORDERS (2018)

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Review Immunology

Advances in the Characterization of the T-Cell Response to Human Herpesvirus-6

Derek J. Hanson et al.

FRONTIERS IN IMMUNOLOGY (2018)

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Article Immunology

Treatment of Granulomas in Patients With Ataxia Telangiectasia

Sandra Woelke et al.

FRONTIERS IN IMMUNOLOGY (2018)

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Review Anatomy & Morphology

Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis

Kay Rui Choy et al.

DEVELOPMENTAL DYNAMICS (2018)

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Article Immunology

The clinical significance of complete class switching defect in Ataxia telangiectasia patients

Saleh Ghiasy et al.

EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2017)

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Review Virology

Epstein-Barr Virus Hijacks DNA Damage Response Transducers to Orchestrate Its Life Cycle

Pok Man Hau et al.

VIRUSES-BASEL (2017)

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Review Clinical Neurology

Ataxia-telangiectasia: recommendations for multidisciplinary treatment

Nienke J. H. van Os et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2017)

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Article Immunology

Ataxia-telangiectasia: Immunodeficiency and survival

Nienke J. H. van Os et al.

CLINICAL IMMUNOLOGY (2017)

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Review Cell Biology

Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing

Yosef Shiloh et al.

AGEING RESEARCH REVIEWS (2017)

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Review Genetics & Heredity

ATM kinase: Much more than a DNA damage responsive protein

Ayushi Guleria et al.

DNA REPAIR (2016)

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Article Gastroenterology & Hepatology

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report

Batia Weiss et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2016)

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Review Genetics & Heredity

Ataxia telangiectasia: a review

Cynthia Rothblum-Oviatt et al.

ORPHANET JOURNAL OF RARE DISEASES (2016)

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Article Pediatrics

Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort

Andreea Nissenkorn et al.

PEDIATRIC RESEARCH (2016)

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Editorial Material Respiratory System

Ataxia telangiectasia: why should the ERS care?

Jayesh M. Bhatt et al.

EUROPEAN RESPIRATORY JOURNAL (2015)

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Article Respiratory System

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Jayesh M. Bhatt et al.

EUROPEAN RESPIRATORY REVIEW (2015)

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Article Cell Biology

Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia

Sandra Voss et al.

GROWTH FACTORS (2014)

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Article Immunology

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia

Matan Kraus et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2014)

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Article

Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgM

Payam Mohammadinejad et al.

JOURNAL OF IMMUNOASSAY & IMMUNOCHEMISTRY (2014)

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Article Pediatrics

Infections of the Respiratory System in Patients With Ataxia-Telangiectasia

Scott A. Schroeder et al.

PEDIATRIC PULMONOLOGY (2014)

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Article Pediatrics

Pulmonary Function in Children and Young Adults With Ataxia Telangiectasia

Sharon A. McGrath-Morrow et al.

PEDIATRIC PULMONOLOGY (2014)

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Article Allergy

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

Gertjan J. Driessen et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)

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Article Immunology

Classical Ataxia Telangiectasia Patients Have a Congenitally Aged Immune System with High Expression of CD95

Ellen F. Carney et al.

JOURNAL OF IMMUNOLOGY (2012)

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Review Clinical Neurology

Neurodegeneration in Ataxia Telangiectasia: What Is New? What Is Evident?

Franziska Hoche et al.

NEUROPEDIATRICS (2012)

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Article Immunology

Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia

Andrew Robert Exley et al.

CLINICAL IMMUNOLOGY (2011)

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Article Pediatrics

Reversible Airway Obstruction in Children With Ataxia Telangiectasia

Yackov Berkun et al.

PEDIATRIC PULMONOLOGY (2010)

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Article Pediatrics

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Laura Folgori et al.

ITALIAN JOURNAL OF PEDIATRICS (2010)

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Article Pediatrics

Interstitial lung disease in patients with ataxia-telangiectasia

SA Schroeder et al.

PEDIATRIC PULMONOLOGY (2005)

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Article Pediatrics

Immunodeficiency and infections in ataxia-telangiectasia

A Nowak-Wegrzyn et al.

JOURNAL OF PEDIATRICS (2004)

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Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience

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