A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  American Journal of Human Genetics

• Publication date

  2006-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/503269PMID 16532402PMCID PMC1424699
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Viral modulation of NK cell immunity

  2005cited by this paper
• Molecular and cellular pathogenesis of X‐linked lymphoproliferative disease

  2005cited by this paper
• Epistasis between mouse Klra and major histocompatibility complex class I loci is associated with a new mechanism of natural killer cell–mediated innate resistance to cytomegalovirus infection

  2005influential reference
• Fatal varicella associated with selective natural killer cell deficiency.

  2005influential reference
• NK cell recognition.

  2005influential reference
• Inborn errors of immunity to infection

  2005cited by this paper
• Absence of circulating natural killer and primed CD8+ cells in life-threatening varicella.

  2005cited by this paper
• Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers.

  2005cited by this paper
• A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.

  2004cited by this paper
• The human model: a genetic dissection of immunity to infection in natural conditions

  2004cited by this paper
• Unravelling natural killer cell function: triggering and inhibitory human NK receptors

  2004influential reference
• Natural Killer Cell Signaling Pathways

  2004influential reference
• Immune functions encoded by the natural killer gene complex

  2003influential reference
• Natural killer cells and viral infections.

  2003cited by this paper
• Recognition of a virus-encoded ligand by a natural killer cell activation receptor

  2002cited by this paper
• Human natural killer cell deficiencies and susceptibility to infection.

  2002influential reference
• Susceptibility to mouse cytomegalovirus is associated with deletion of an activating natural killer cell receptor of the C-type lectin superfamily

  2001cited by this paper
• A virus finds its natural killer

  2001cited by this paper
• Vital Involvement of a Natural Killer Cell Activation Receptor in Resistance to Viral Infection

  2001cited by this paper
• Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations.

  1997cited by this paper
• Mendelian inheritance in man: A catalog of human genes and genetic disorders

  1996cited by this paper
• Parametric and nonparametric linkage analysis: a unified multipoint approach.

  1996cited by this paper
• Severe herpesvirus infections in an adolescent without natural killer cells.

  1989cited by this paper
• Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

  1987cited by this paper

• Mechanistic Understanding of EBV+Lymphoproliferative Disease Development After Transplantation

  2024cites this paper
• Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency

  2023cites this paper
• iPSC-based modeling of helicase deficiency reveals impaired cell proliferation and increased apoptosis after NK cell lineage commitment

  2023cites this paper
• Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity

  2023cites this paper
• Natural killer cell exhaustion in SARS-CoV-2 infection

  2022cites this paper
• Oncogenic viruses, cancer biology, and innate immunity.

  2022cites this paper
• Natural killer cell responses to human oncogenic γ-herpesvirus infections.

  2022cites this paper
• Costimulatory CD226 Signaling Regulates Proliferation of Memory-like NK Cells in Healthy Individuals with Latent Mycobacterium tuberculosis Infection

  2022cites this paper
• Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

  2022influential citation
• Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms

  2021cites this paper
• Epstein–Barr Virus—Associated Malignancies and Immune Escape: The Role of the Tumor Microenvironment and Tumor Cell Evasion Strategies

  2021cites this paper
• Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

  2021cites this paper
• Natural Killer Cell Responses during Human γ-Herpesvirus Infections

  2021cites this paper
• Natural Killer Cells in Post-Transplant Lymphoproliferative Disorders

  2021cites this paper
• Regulation of the Macroautophagic Machinery, Cellular Differentiation, and Immune Responses by Human Oncogenic γ-Herpesviruses

  2021cites this paper
• Roles of Lytic Viral Replication and Co-Infections in the Oncogenesis and Immune Control of the Epstein–Barr Virus

  2021cites this paper
• The Biological Role and Therapeutic Potential of NK Cells in Hematological and Solid Tumors

  2021cites this paper
• Natural killer cell deficiency

  2020cites this paper
• Understanding the Cellular Consequences of Meier-Gorlin Syndrome

  2020cites this paper
• Cytotoxicity in Epstein Barr virus specific immune control.

  2020cites this paper
• Inborn Errors of Immunity and Cancers

  2020cites this paper
• DNA stability defects

  2020cites this paper
• Predisposition to Severe Viral Infection, MCM4 Deficiency

  2020cites this paper
• Memory like NK cells display stem cell like properties after Zika virus infection

  2020cites this paper
• Co-infection of Cytomegalovirus and Epstein-Barr Virus Diminishes the Frequency of CD56dimNKG2A+KIR− NK Cells and Contributes to Suboptimal Control of EBV in Immunosuppressed Children With Post-transplant Lymphoproliferative Disorder

  2020cites this paper
• Vaccination against the Epstein–Barr virus

  2020cites this paper
• Human NK cell deficiency as a result of biallelic mutations in MCM10

  2019cites this paper
• Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients.

  2019cites this paper
• Post-Translational Modifications of the Mini-Chromosome Maintenance Proteins in DNA Replication

  2019cites this paper
• Does Natural Killer Cell Deficiency (NKD) Increase the Risk of Cancer? NKD May Increase the Risk of Some Virus Induced Cancer

  2019influential citation
• Immunodeficiencies that predispose to pathologies by human oncogenic γ-herpesviruses

  2019cites this paper
• The Impact of Immunodeficiency on NK Cell Maturation and Function

  2019cites this paper
• From the “missing self” hypothesis to adaptive NK cells: Insights of NK cell‐mediated effector functions in immune surveillance

  2019cites this paper
• NK Cells in the Treatment of Hematological Malignancies

  2019cites this paper
• NK cell defects in X-linked pigmentary reticulate disorder

  2019cites this paper
• How I Manage Natural Killer Cell Deficiency

  2019cites this paper
• Epstein–Barr virus infection in primary immunodeficiency

  2018cites this paper
• Emerging insights into human health and NK cell biology from the study of NK cell deficiencies

  2018cites this paper
• Chapter 22 – Natural Killer Cell Immunity

  2018cites this paper
• Herpesvirus-assoziierte lymphoproliferative Erkrankungen und maligne Lymphome

  2018cites this paper
• Diversification of human NK cells: Lessons from deep profiling

  2018cites this paper
• NK Cell Subsets in Health and Disease: New Developments

  2017cites this paper
• Defects in Intrinsic and Innate Immunity: Receptors and Signaling Components

  2017cites this paper
• Hepatitis C Virus and Human Cytomegalovirus—Natural Killer Cell Subsets in Persistent Viral Infections

  2017cites this paper
• University of Birmingham The impact of ageing on natural killer cell function and potential consequences for health in older adults

  2017cites this paper
• Epstein–Barr Virus-Specific Immune Control by Innate Lymphocytes

  2017cites this paper
• Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans.

  2017cites this paper
• NK Cell Influence on the Outcome of Primary Epstein–Barr Virus Infection

  2016cites this paper
• Natural Killer Cell Diversity in Viral Infection: Why and How Much?

  2016cites this paper
• Primary immunodeficiencies associated with EBV-Induced lymphoproliferative disorders.

  2016cites this paper
• Licensed and Unlicensed NK Cells: Differential Roles in Cancer and Viral Control

  2016cites this paper
• Inhibitory killer cell immunoglobulin‐like receptor (iKIR) mismatches improve survival after T‐cell‐repleted haploidentical transplantation

  2016cites this paper
• Natural Killer Cells

  2016cites this paper
• NKG2A-Expressing Natural Killer Cells Dominate the Response to Autologous Lymphoblastoid Cells Infected with Epstein–Barr Virus

  2016cites this paper
• Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets

  2016cites this paper
• Primary immunodeficiencies and the control of Epstein–Barr virus infection

  2015cites this paper
• Distinct mechanisms of tumor resistance to NK killing: of mice and men.

  2015cites this paper
• The immunology of Epstein-Barr virus-induced disease.

  2015cites this paper
• HLA Allele E*01:01 Is Associated with a Reduced Risk of EBV-Related Classical Hodgkin Lymphoma Independently of HLA-A*01/*02

  2015cites this paper
• Primary Immunodeficiencies Associated with EBV Disease.

  2015cites this paper
• Cellular immune controls over Epstein-Barr virus infection: new lessons from the clinic and the laboratory.

  2014cites this paper
• Human natural killer cell responses to tumour-priming

  2014cites this paper
• The interplay between Epstein–Barr virus and B lymphocytes: implications for infection, immunity, and disease

  2014cites this paper
• IL-12-producing monocytes and HLA-E control HCMV-driven NKG2C+ NK cell expansion.

  2014cites this paper
• Role of human natural killer cells during Epstein-Barr virus infection.

  2014cites this paper
• [Variation in NK cell number and function in individuals with recurrent or severe infections].

  2014cites this paper
• Chapter 39 – Natural Killer Cell Deficiency

  2014cites this paper
• Ly49C-Dependent Control of MCMV Infection by NK Cells Is Cis-Regulated by MHC Class I Molecules

  2014cites this paper
• IMMUNE REPERTOIRE DIVERSITY IN ALLOGENEIC STEM CELL TRANSPLANTATION AND ITS IMPLICATIONS FOR INFECTIONS AND THE GRAFT VERSUS LEUKEMIA EFFECT

  2014cites this paper
• Mechanisms underlying innate immunesenescence

  2013cites this paper
• The role of natural killer cells in pulmonary immunosurveillance.

  2013cites this paper
• A Distinct Subpopulation of Human NK Cells Restricts B Cell Transformation by EBV

  2013cites this paper
• Primary immunodeficiencies: a rapidly evolving story.

  2013cites this paper
• Innate immune responses against Epstein Barr virus infection

  2013cites this paper
• Primary immunodeficiencies predisposed to Epstein‐Barr virus‐driven haematological diseases

  2013cites this paper
• The impact of ageing on natural killer cell function and potential consequences for health in older adults

  2013cites this paper
• Inborn errors of the development of human natural killer cells

  2013cites this paper
• Human natural killer cells prevent infectious mononucleosis features by targeting lytic Epstein-Barr virus infection.

  2013cites this paper
• Natural killer cell deficiency.

  2013cites this paper
• Variaciones en el número y función de los linfocitos asesinos naturales durante infecciones recurrentes o graves

  2013cites this paper
• REGULATION FONCTIONNELLE DES CELLULES NATURAL KILLER PAR LE RECEPTEUR ACTIVATEUR NKP46

  2013cites this paper
• CD56+ T cells in vivo A role for interleukin-12/23 in the maturation of human natural killer and

  2013cites this paper
• Immunogenetics of infection: MHC class I molecules and NK cell receptors interplay in the recognition of MCMV-infected cell and infection outcome

  2013cites this paper
• Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

  2012cites this paper
• Unraveling the mystery of the hygiene hypothesis through Helicobacter pylori infection.

  2012cites this paper
• Clinical reviews in allergy and immunology

  2012cites this paper
• Characterisation of CD8neg and CD8+ human natural killer cell subsets

  2012cites this paper
• Genetic dissection of NK cell responses

  2012cites this paper
• Unraveling human natural killer cell deficiency.

  2012influential citation
• Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

  2012cites this paper
• Kompleksowa ocena kliniczna i immunodiagnostyczna dzieci z zaburzeniami biosyntezy przeciwciał

  2012cites this paper
• Insights into NK cell biology from human genetics and disease associations

  2011cites this paper
• Innate or Adaptive Immunity? The Example of Natural Killer Cells

  2011cites this paper
• Natural killer cell cytotoxicity in patients with recurrent herpes infections: diagnostic utility of a flow cytometric assay

  2010cites this paper
• Natural Killer Cells: Deciphering Their Role, Diversity and Functions

  2010cites this paper
• Adaptive immune responses mediated by natural killer cells

  2010cites this paper
• The Immune System in the Oldest-Old Clinical and Immunological Studies in the NONA Immune Cohort

  2010cites this paper
• Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

  2010cites this paper
• Variation of human natural killer cell phenotypes with age: identification of a unique KLRG1-negative subset.

  2010cites this paper
• The natural killer cell: a further innate mediator of gouty inflammation?

  2010cites this paper