Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets

GATA2 regulates dendritic cell differentiation

(2016) K. Onodera et al.   BLOOD

Critical Role of CD2 Co-stimulation in Adaptive Natural Killer Cell Responses Revealed in NKG2C-Deficient Humans

(2016) Lisa L. Liu et al.   Cell Reports

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

(2015) M. W. Wlodarski et al.   BLOOD

Cytomegalovirus Infection Drives Adaptive Epigenetic Diversification of NK Cells with Altered Signaling and Effector Function

(2015) Heinrich Schlums et al.   IMMUNITY

Epigenetic Modification and Antibody-Dependent Expansion of Memory-like NK Cells in Human Cytomegalovirus-Infected Individuals

(2015) Jaewon Lee et al.   IMMUNITY

Practical NK cell phenotyping and variability in healthy adults

(2015) Laura S. Angelo et al.   IMMUNOLOGIC RESEARCH

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency

(2015) Suheir Hanna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

(2015) Anna Maciejewski-Duval et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Human NK cell repertoire diversity reflects immune experience and correlates with viral susceptibility

(2015) Dara M. Strauss-Albee et al.   Science Translational Medicine

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation

(2014) S. Salem et al.   BLOOD

Clonal Tracking of Rhesus Macaque Hematopoiesis Highlights a Distinct Lineage Origin for Natural Killer Cells

(2014) Chuanfeng Wu et al.   Cell Stem Cell

Carrier screening ofRTEL1mutations in the Ashkenazi Jewish population

(2014) A.M. Fedick et al.   CLINICAL GENETICS

An Unusual CD56brightCD16low NK Cell Subset Dominates the Early Posttransplant Period following HLA-Matched Hematopoietic Stem Cell Transplantation

(2014) N. Dulphy et al.   JOURNAL OF IMMUNOLOGY

Human Immunodeficiency Syndromes Affecting Human Natural Killer Cell Cytolytic Activity

(2014) Hyoungjun Ham et al.   Frontiers in Immunology

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset

(2013) E. M. Mace et al.   BLOOD

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

(2013) M. A. Spinner et al.   BLOOD

The evolution of cellular deficiency in GATA2 mutation

(2013) R. E. Dickinson et al.   BLOOD

An expression atlas of human primary cells: inference of gene function from coexpression networks

(2013) Neil A Mabbott et al.   BMC GENOMICS

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

(2013) Bari J. Ballew et al.   HUMAN GENETICS

Natural killer cell deficiency

(2013) Jordan S. Orange   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cytomegalovirus-Seropositive Children Show Inhibition of In Vitro EBV Infection That Is Associated with CD8+CD57+ T Cell Enrichment and IFN- 

(2013) E. Sohlberg et al.   JOURNAL OF IMMUNOLOGY

Cutting Edge: Antibody-Dependent Memory-like NK Cells Distinguished by FcR  Deficiency

(2013) T. Zhang et al.   JOURNAL OF IMMUNOLOGY

Genetic and Environmental Determinants of Human NK Cell Diversity Revealed by Mass Cytometry

(2013) A. Horowitz et al.   Science Translational Medicine

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

(2013) Bari J. Ballew et al.   PLoS Genetics

Unraveling human natural killer cell deficiency

(2012) Jordan S. Orange   JOURNAL OF CLINICAL INVESTIGATION

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

(2012) Claire R. Hughes et al.   JOURNAL OF CLINICAL INVESTIGATION

Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

(2012) Jennifer T. Grier et al.   JOURNAL OF CLINICAL INVESTIGATION

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

(2012) Laure Gineau et al.   JOURNAL OF CLINICAL INVESTIGATION

Cytotoxicity of CD56bright NK Cells towards Autologous Activated CD4+ T Cells Is Mediated through NKG2D, LFA-1 and TRAIL and Dampened via CD94/NKG2A

(2012) Natasja Nielsen et al.   PLoS One

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Cytomegalovirus reactivation after allogeneic transplantation promotes a lasting increase in educated NKG2C+ natural killer cells with potent function

(2011) B. Foley et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

CMV drives clonal expansion of NKG2C+NK cells expressing self-specific KIRs in chronic hepatitis patients

(2011) Vivien Béziat et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Human NK Cells Proliferate and Die In Vivo More Rapidly than T Cells in Healthy Young and Elderly Adults

(2011) C. T. Lutz et al.   JOURNAL OF IMMUNOLOGY

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Unconventional Repertoire Profile Is Imprinted during Acute Chikungunya Infection for Natural Killer Cells Polarization toward Cytotoxicity

(2011) Caroline Petitdemange et al.   PLoS Pathogens

GATA Switches as Developmental Drivers

(2010) Emery H. Bresnick et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus

(2010) Niklas K. Björkström et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Revisiting human natural killer cell subset function revealed cytolytic CD56dimCD16+ NK cells as rapid producers of abundant IFN-  on activation

(2010) A. De Maria et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CD56 negative NK cells: origin, function, and role in chronic viral disease

(2010) Niklas K. Björkström et al.   TRENDS IN IMMUNOLOGY

Chronic HIV-1 viremia reverses NKG2A/NKG2C ratio on natural killer cells in patients with human cytomegalovirus co-infection

(2009) Enrico Brunetta et al.   AIDS

High GATA-2 expression inhibits human hematopoietic stem and progenitor cell function by effects on cell cycle

(2009) A. J. Tipping et al.   BLOOD

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

(2009) D. C. Vinh et al.   BLOOD

Structural biology of MCM helicases

(2009) Alessandro Costa et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Expansion of Functionally Skewed CD56-Negative NK Cells in Chronic Hepatitis C Virus Infection: Correlation with Outcome of Pegylated IFN-  and Ribavirin Treatment

(2009) V. D. Gonzalez et al.   JOURNAL OF IMMUNOLOGY

The human GINS complex associates with Cdc45 and MCM and is essential for DNA replication

(2009) Tomás Aparicio et al.   NUCLEIC ACIDS RESEARCH

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

A Novel Variant of Familial Glucocorticoid Deficiency Prevalent among the Irish Traveler Population

(2008) Stephen M. P. O'Riordan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IL-15 trans-presentation promotes human NK cell development and differentiation in vivo

(2008) Nicholas D. Huntington et al.   JOURNAL OF EXPERIMENTAL MEDICINE