Insights into NK cell biology from human genetics and disease associations

Perforin: structure, function, and role in human immunopathology

(2015) Ilia Voskoboinik et al.   IMMUNOLOGICAL REVIEWS

Noncytotoxic Functions of NK Cells: Direct Pathogen Restriction and Assistance to Adaptive Immunity

(2014) T. Strowig et al.   JOURNAL OF IMMUNOLOGY

Innate or Adaptive Immunity? The Example of Natural Killer Cells

(2011) E. Vivier et al.   SCIENCE

The Unique Properties of Uterine NK Cells

(2010) Irit Manaster et al.   AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

(2010) M. Meeths et al.   BLOOD

Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced  2 integrin high-affinity state

(2010) H. Stabile et al.   BLOOD

CD62L expression identifies a unique subset of polyfunctional CD56dim NK cells

(2010) K. Juelke et al.   BLOOD

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

(2010) R. A. Marsh et al.   BLOOD

Expression patterns of NKG2A, KIR, and CD57 define a process of CD56dim NK-cell differentiation uncoupled from NK-cell education

(2010) N. K. Bjorkstrom et al.   BLOOD

CD57 defines a functionally distinct population of mature NK cells in the human CD56dimCD16+ NK-cell subset

(2010) S. Lopez-Verges et al.   BLOOD

Defective neutrophil and lymphocyte function in leucocyte adhesion deficiency

(2010) Y. L. LAU et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

(2010) J. Rohr et al.   HAEMATOLOGICA

Synergistic Signals for Natural Cytotoxicity Are Required to Overcome Inhibition by c-Cbl Ubiquitin Ligase

(2010) Hun Sik Kim et al.   IMMUNITY

Cytotoxic immunological synapses

(2010) Michael L. Dustin et al.   IMMUNOLOGICAL REVIEWS

Natural killer cells in atopic and autoimmune diseases of the skin

(2010) Dagmar von Bubnoff et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors

(2010) Shin-ichiro Yoshimura et al.   JOURNAL OF CELL BIOLOGY

Rapid Lytic Granule Convergence to the MTOC in Natural Killer Cells Is Dependent on Dynein But Not Cytolytic Commitment

(2010) Ashley N. Mentlik et al.   MOLECULAR BIOLOGY OF THE CELL

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

(2010) Lynn Petukhova et al.   NATURE

The structural basis for membrane binding and pore formation by lymphocyte perforin

(2010) Ruby H. P. Law et al.   NATURE

Distinct Role of Rab27a in Granule Movement at the Plasma Membrane and in the Cytosol of NK Cells

(2010) Dongfang Liu et al.   PLoS One

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors

(2009) Y. T. Bryceson et al.   BLOOD

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity

(2009) S. M. Wood et al.   BLOOD

Regulation of human NK-cell cytokine and chemokine production by target cell recognition

(2009) C. Fauriat et al.   BLOOD

CD94 surface density identifies a functional intermediary between the CD56bright and CD56dim human NK-cell subsets

(2009) J. Yu et al.   BLOOD

Genetic etiologies of leukocyte adhesion defects

(2009) Amos Etzioni   CURRENT OPINION IN IMMUNOLOGY

Natural killer cells in human autoimmunity

(2009) Malin Flodström-Tullberg et al.   CURRENT OPINION IN IMMUNOLOGY

Primary immunodeficiencies: increasing market share

(2009) Luigi D Notarangelo et al.   CURRENT OPINION IN IMMUNOLOGY

Integrin-Dependent Organization and Bidirectional Vesicular Traffic at Cytotoxic Immune Synapses

(2009) Dongfang Liu et al.   IMMUNITY

ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+entry in the immune system and beyond

(2009) Stefan Feske   IMMUNOLOGICAL REVIEWS

Improvement of deficient natural killer activity and delayed bactericidal activity by a thiol proteinase inhibitor, E-64-d, in leukocytes from Chediak–Higashi syndrome patients in vitro

(2009) Fuminori Tanabe et al.   INTERNATIONAL IMMUNOPHARMACOLOGY

Primary immunodeficiencies: 2009 update

(2009) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

(2009) Kirsten Huck et al.   JOURNAL OF CLINICAL INVESTIGATION

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

Myosin IIA Associates with NK Cell Lytic Granules to Enable Their Interaction with F-Actin and Function at the Immunological Synapse

(2009) K. B. Sanborn et al.   JOURNAL OF IMMUNOLOGY

The role of the activating receptor NKG2D in autoimmunity

(2009) Tom L. Van Belle et al.   MOLECULAR IMMUNOLOGY

The basic leucine zipper transcription factor E4BP4 is essential for natural killer cell development

(2009) Duncan M Gascoyne et al.   NATURE IMMUNOLOGY

Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

(2009) J. Chia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative disease

(2009) N. Nagy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Natural Killer Cell Signal Integration Balances Synapse Symmetry and Migration

(2009) Fiona J. Culley et al.   PLOS BIOLOGY

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

(2008) G. Menasche et al.   BLOOD

Human natural killer cells

(2008) M. A. Caligiuri   BLOOD

Line of attack: NK cell specificity and integration of signals

(2008) Yenan T Bryceson et al.   CURRENT OPINION IN IMMUNOLOGY

Non-cytotoxic protection by human NK cells in mucosal secondary lymphoid tissues

(2008) Christian Münz   EUROPEAN JOURNAL OF IMMUNOLOGY

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

(2008) J P Rubio et al.   GENES AND IMMUNITY

CD226 Gly307Ser association with multiple autoimmune diseases

(2008) J P Hafler et al.   GENES AND IMMUNITY

Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population

(2008) Akari Suzuki et al.   NATURE GENETICS

Functions of natural killer cells

(2008) Eric Vivier et al.   NATURE IMMUNOLOGY

Mechanisms of membrane fusion: disparate players and common principles

(2008) Sascha Martens et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Yin and Yang of HLA and KIR in human disease

(2008) Smita Kulkarni et al.   SEMINARS IN IMMUNOLOGY

Slp1 and Slp2-a Localize to the Plasma Membrane of CTL and Contribute to Secretion from the Immunological Synapse

(2008) Oliver Holt et al.   TRAFFIC