Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases

The Tec Kinases Itk and Rlk Regulate NKT Cell Maturation, Cytokine Production, and Survival

(2014) M. Felices et al.   JOURNAL OF IMMUNOLOGY

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

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

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

(2013) B. Jessen et al.   BLOOD

Primary immunodeficiencies: A rapidly evolving story

(2013) Nima Parvaneh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

(2013) Despina Moshous et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Testing for Herpesvirus Infection Is Essential in Children with Chromosomal-Instability Syndromes

(2013) P. Lankisch et al.   JOURNAL OF VIROLOGY

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

(2012) J. Pagel et al.   BLOOD

The phenotype of human STK4 deficiency

(2012) H. Abdollahpour et al.   BLOOD

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

(2012) E. Salzer et al.   HAEMATOLOGICA

IL-2-Inducible T-Cell Kinase Deficiency with Pulmonary Manifestations due to Disseminated Epstein-Barr Virus Infection

(2012) D. Mansouri et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

Clinical and Genetic Characteristics of XIAP Deficiency in Japan

(2012) Xi Yang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

FOXO3 Regulates the CD8 T Cell Response to a Chronic Viral Infection

(2012) J. A. Sullivan et al.   JOURNAL OF VIROLOGY

Ataxia Telangiectasia Mutated Kinase Controls Chronic Gammaherpesvirus Infection

(2012) J. M. Kulinski et al.   JOURNAL OF VIROLOGY

Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases

(2012) R M Linka et al.   LEUKEMIA

T-cell therapy in the treatment of post-transplant lymphoproliferative disease

(2012) Catherine M. Bollard et al.   Nature Reviews Clinical Oncology

Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis

(2012) Hirokazu Kanegane et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab

(2012) Rebecca A. Marsh et al.   PEDIATRIC BLOOD & CANCER

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

(2012) Amandine Crequer et al.   PLoS One

Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease

(2011) Rebecca A. Marsh et al.   Annals of the New York Academy of Sciences

Familial and Acquired Hemophagocytic Lymphohistiocytosis

(2011) G.E. Janka   Annual Review of Medicine

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

(2011) J. Sumegi et al.   BLOOD

How I treat hemophagocytic lymphohistiocytosis

(2011) M. B. Jordan et al.   BLOOD

Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States

(2011) J. I. Cohen et al.   BLOOD

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

(2011) N. T. Nehme et al.   BLOOD

Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward

(2011) Rebecca A. Marsh et al.   BRITISH JOURNAL OF HAEMATOLOGY

Epstein-Barr virus–positive T-cell lymphoma cells having chromosome 22q11.2 deletion: an autopsy report of DiGeorge syndrome

(2011) Shigemi Itoh et al.   HUMAN PATHOLOGY

The Costimulatory Molecule CD27 Maintains Clonally Diverse CD8+ T Cell Responses of Low Antigen Affinity to Protect against Viral Variants

(2011) Klaas P.J.M. van Gisbergen et al.   IMMUNITY

Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein–Barr virus infection

(2011) Keiko Nomura et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

(2011) Joris M. van Montfrans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Migration and Homeostasis of Naive T Cells Depends on Coronin 1-Mediated Prosurvival Signals and Not on Coronin 1-Dependent Filamentous Actin Modulation

(2011) Philipp Mueller et al.   JOURNAL OF IMMUNOLOGY

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

(2011) Feng-Yen Li et al.   NATURE

iNKT Cell Frequency in Peripheral Blood of Caucasian Children and Adolescent: The Absolute iNKT Cell Count is Stable from Birth to Adulthood

(2011) K. Bienemann et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Molecular Pathogenesis of EBV Susceptibility in XLP as Revealed by Analysis of Female Carriers with Heterozygous Expression of SAP

(2011) Umaimainthan Palendira et al.   PLOS BIOLOGY

X-linked lymphoproliferative syndromes: brothers or distant cousins?

(2010) A. H. Filipovich et al.   BLOOD

Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets

(2010) A. D. Hislop et al.   BLOOD

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid 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

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

Excellent outcome of allogeneic hematopoietic SCT with reduced-intensity conditioning for the treatment of chronic active EBV infection

(2010) K Kawa et al.   BONE MARROW TRANSPLANTATION

An ATM/Chk2-Mediated DNA Damage-Responsive Signaling Pathway Suppresses Epstein-Barr Virus Transformation of Primary Human B Cells

(2010) Pavel A. Nikitin et al.   Cell Host & Microbe

The Hippo-YAP pathway in organ size control and tumorigenesis: an updated version

(2010) B. Zhao et al.   GENES & DEVELOPMENT

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

(2010) J. Rohr et al.   HAEMATOLOGICA

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach

(2010) P. Stepensky et al.   HAEMATOLOGICA

Optimal Germinal Center Responses Require a Multistage T Cell:B Cell Adhesion Process Involving Integrins, SLAM-Associated Protein, and CD84

(2010) Jennifer L. Cannons et al.   IMMUNITY

The power and the promise of restimulation-induced cell death in human immune diseases

(2010) Andrew L. Snow et al.   IMMUNOLOGICAL REVIEWS

The Wiskott-Aldrich syndrome protein regulates CTL cytotoxicity and is required for efficient killing of B cell lymphoma targets

(2010) Julie De Meester et al.   JOURNAL OF LEUKOCYTE BIOLOGY

In Vivo Significance of ITK-SLP-76 Interaction in Cytokine Production

(2010) J. A. Grasis et al.   MOLECULAR AND CELLULAR BIOLOGY

Infectious Mononucleosis

(2010) Katherine Luzuriaga et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hodgkin's and Non-Hodgkin's Lymphomas Occurring in Two Brothers with Wiskott-Aldrich Syndrome and Review of the Literature

(2010) Shouying Du et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2

(2010) Norihiko Ohbayashi et al.   Pigment Cell & Melanoma Research

Viral infections associated with haemophagocytic syndrome

(2010) Nadine Rouphael Maakaroun et al.   REVIEWS IN MEDICAL VIROLOGY

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

Epstein-Barr virus-associated lymphoproliferative disease in non-immunocompromised hosts: a status report and summary of an international meeting, 8-9 September 2008

(2009) J. I. Cohen et al.   ANNALS OF ONCOLOGY

Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS)

(2009) David T. Teachey et al.   BRITISH JOURNAL OF HAEMATOLOGY

XIAP as a ubiquitin ligase in cellular signaling

(2009) S Galbán et al.   CELL DEATH AND DIFFERENTIATION

An Essential Role of the Forkhead-Box Transcription Factor Foxo1 in Control of T Cell Homeostasis and Tolerance

(2009) Weiming Ouyang et al.   IMMUNITY

Differential Expression of Interleukin-17A and -17F Is Coupled to T Cell Receptor Signaling via Inducible T Cell Kinase

(2009) Julio Gomez-Rodriguez et al.   IMMUNITY

Importance and mechanism of ‘switch’ function of SAP family adapters

(2009) André Veillette et al.   IMMUNOLOGICAL REVIEWS

Timing and tuning of CD27-CD70 interactions: the impact of signal strength in setting the balance between adaptive responses and immunopathology

(2009) Martijn A. Nolte et al.   IMMUNOLOGICAL REVIEWS

Tec kinases regulate T-lymphocyte development and function: new insights into the roles of Itk and Rlk/Txk

(2009) Julie A. Readinger et al.   IMMUNOLOGICAL REVIEWS

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

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Foxo1 links homing and survival of naive T cells by regulating L-selectin, CCR7 and interleukin 7 receptor

(2009) Yann M Kerdiles et al.   NATURE IMMUNOLOGY

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

Allogeneic hematopoietic stem cell transplantation for Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disease in Japan

(2008) Emiko Sato et al.   AMERICAN JOURNAL OF HEMATOLOGY

Immunodeficiency-associated lymphomas

(2008) Huy Tran et al.   BLOOD REVIEWS

The XLP syndrome protein SAP interacts with SH3 proteins to regulate T cell signaling and proliferation

(2008) C LI et al.   CELLULAR SIGNALLING

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

(2008) Setareh Mamishi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency

(2008) Lawrence R Shiow et al.   NATURE IMMUNOLOGY

Coronin-1A Links Cytoskeleton Dynamics to TCRαβ-Induced Cell Signaling

(2008) Bénédicte Mugnier et al.   PLoS One