Related references
Note: Only part of the references are listed.A case of wild-type rubella-associated cutaneous granuloma in ataxia telangiectasia
Rachel Browne et al.
PEDIATRIC DERMATOLOGY (2022)
The natural history of ataxia-telangiectasia (A-T): A systematic review
Emily Petley et al.
PLOS ONE (2022)
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India
Amit Rawat et al.
SCIENTIFIC REPORTS (2022)
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2022)
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation
Nel Dabrowska-Leonik et al.
FRONTIERS IN IMMUNOLOGY (2022)
Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience
Aleksandra Szczawinska-Poplonyk et al.
FRONTIERS IN PEDIATRICS (2022)
Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome
Lihong Jiang et al.
FRONTIERS IN PEDIATRICS (2022)
Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients
Parisa Amirifar et al.
IMMUNOLOGICAL INVESTIGATIONS (2021)
Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency
Juliana M. F. Silva et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2021)
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency
Petro Starokadomskyy et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2021)
DNMT3B deficiency presenting as severe combined immune deficiency: A case report
Cybel Mehawej et al.
CLINICAL IMMUNOLOGY (2020)
Human NK cell deficiency as a result of biallelic mutations in MCM10
Emily M. Mace et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging
Vinod Tiwari et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
David Buchbinder et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2019)
Immunodeficiency in Bloom's Syndrome
Michiel H. D. Schoenaker et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Clare Logan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features
Hamza A. Alghamdi et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2018)
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Patrick Maffucci et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Mechanisms of DNA Damage, Repair, and Mutagenesis
Nimrat Chatterjee et al.
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS (2017)
The clinical significance of complete class switching defect in Ataxia telangiectasia patients
Saleh Ghiasy et al.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2017)
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Julien Cottineau et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings
Barbara Pietrucha et al.
FRONTIERS IN IMMUNOLOGY (2017)
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
M. L. van den Boogaard et al.
CLINICAL GENETICS (2017)
A novel mutation in the POLE2 gene causing combined immunodeficiency
Francesco Frugoni et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2016)
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
Saskia N. van der Crabben et al.
JOURNAL OF CLINICAL INVESTIGATION (2016)
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
Shu Zhang et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2016)
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis
Petro Starokadomskyy et al.
NATURE IMMUNOLOGY (2016)
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
Isabelle Thiffault et al.
BMC MEDICAL GENETICS (2015)
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis
Beata Wolska-Kusnierz et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies
Felipe Suarez et al.
JOURNAL OF CLINICAL ONCOLOGY (2015)
Epstein-Barr Virus-associated Extranodal Marginal Zone Lymphoma of Mucosa-associated Lymphoid Tissue (MALT Lymphoma) Arising in the Parotid Gland of a Child With Ataxia Telangiectasia
Jennifer A. Bennett et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2015)
Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab
Michael T. Meister et al.
PEDIATRIC BLOOD & CANCER (2015)
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Peter E. Thijssen et al.
NATURE COMMUNICATIONS (2015)
RNF168 Promotes Noncanonical K27 Ubiquitination to Signal DNA Damage
Marco Gatti et al.
CELL REPORTS (2015)
Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients
C. Chopra et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Horst von Bernuth et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Infections of the Respiratory System in Patients With Ataxia-Telangiectasia
Scott A. Schroeder et al.
PEDIATRIC PULMONOLOGY (2014)
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature
Lidia Pezzani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
Corry M. R. Weemaes et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
Claire R. Hughes et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
Laure Gineau et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
Jana Pachlopnik Schmid et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2012)
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
Jillian P. Casey et al.
JOURNAL OF MEDICAL GENETICS (2012)
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia
S. S. Devgan et al.
CELL DEATH AND DIFFERENTIATION (2011)
Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?
L. Y. T. Chiam et al.
DERMATOLOGY (2011)
NIJMEGEN BREAKAGE SYNDROME COMPLICATED WITH PRIMARY CUTANEOUS TUBERCULOSIS
Melinda Erdoes et al.
PEDIATRIC INFECTIOUS DISEASE JOURNAL (2011)
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy
Hanna Gregorek et al.
CLINICAL IMMUNOLOGY (2010)
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
J. G. Noordzij et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2009)
Oral findings in patients with Nijmegen breakage syndrome: A preliminary study
Hanna Gregorek et al.
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY (2009)
Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene
E. R. Staples et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2008)
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
Sophie Peron et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2008)
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M. M. Hagleitner et al.
JOURNAL OF MEDICAL GENETICS (2008)
Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome
Andrew R. Gennery et al.
PEDIATRICS (2007)
The relationship of hepatitis B virus infection and non-Hodgkin's lymphoma and its impact on clinical characteristics and prognosis
Soon-Thye Lim et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2007)
Crystal structure of the GINS complex and functional insights into its role in DNA replication
Y. Paul Chang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Intact T cell responses in ataxia telangiectasia
Farzana Pashankar et al.
CLINICAL IMMUNOLOGY (2006)
ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex
JH Lee et al.
SCIENCE (2005)
X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review
RC Anderson et al.
PEDIATRIC DERMATOLOGY (2005)
Immunodeficiency and infections in ataxia-telangiectasia
A Nowak-Wegrzyn et al.
JOURNAL OF PEDIATRICS (2004)
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints
A Sancar et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2004)
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre
H Gregorek et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2002)
Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in eight unrelated Russian families
IB Resnick et al.
JOURNAL OF PEDIATRICS (2002)
Immunodeficiency associated with DNA repair defects
AR Gennery et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2000)
Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia
MA Lefton-Greif et al.
JOURNAL OF PEDIATRICS (2000)
Share Paper
