Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites

(2017) Jiancong Liang et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Use of a mouse model to identify a blood biomarker for IFNγ activity in pediatric secondary hemophagocytic lymphohistiocytosis

(2017) Vanessa Buatois et al.   Translational Research

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

(2016) B. Hartz et al.   BLOOD

Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis

(2016) R. Das et al.   BLOOD

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice

(2016) Sophia Maschalidi et al.   BLOOD

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

(2016) Cathal L. Steele et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

(2016) Kazushi Izawa et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

(2016) Hassan Abolhassani et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study

(2016) Xiao-Jun Xu et al.   PEDIATRIC BLOOD & CANCER

Salvage therapy for refractory hemophagocytic lymphohistiocytosis: A review of the published experience

(2016) Rebecca A. Marsh et al.   PEDIATRIC BLOOD & CANCER

Therapeutic plasma exchange in primary hemophagocytic lymphohistiocytosis: Reports of two cases and a review of the literature

(2016) Mehmet Bosnak et al.   TRANSFUSION AND APHERESIS SCIENCE

Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations

(2015) M. Abdalgani et al.   BLOOD

BIRC4 Mutation

(2015) Matthew L. Basiaga et al.   JCR-JOURNAL OF CLINICAL RHEUMATOLOGY

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele

(2015) Xi Yang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Spectrum of Atypical Clinical Presentations in Patients with BiallelicPRF1Missense Mutations

(2015) Bianca Tesi et al.   PEDIATRIC BLOOD & CANCER

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygousXIAPmutation and skewed X chromosome inactivation

(2015) Jennifer R. Holle et al.   PEDIATRIC BLOOD & CANCER

Perforin: structure, function, and role in human immunopathology

(2015) Ilia Voskoboinik et al.   IMMUNOLOGICAL REVIEWS

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus

(2014) F.-Y. Li et al.   BLOOD

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency

(2014) S. Ammann et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients withSH2D1AandXIAP/BIRC4Mutations

(2014) Carrie E. Gifford et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

Successful use of etanercept in the treatment of acute lupus hemophagocytic syndrome

(2014) Nobuyuki Takahashi et al.   Modern Rheumatology

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

Plasma Exchange, Methylprednisolone, IV Immune Globulin, and Now Anakinra Support Continued PICU Equipoise in Management of Hyperferritinemia-Associated Sepsis/Multiple Organ Dysfunction Syndrome/Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis Syndrome*

(2014) Dennis W. Simon et al.   Pediatric Critical Care Medicine

Therapeutic Role of Anakinra, an Interleukin-1 Receptor Antagonist, in the Management of Secondary Hemophagocytic Lymphohistiocytosis/Sepsis/Multiple Organ Dysfunction/Macrophage Activating Syndrome in Critically Ill Children*

(2014) Surender Rajasekaran et al.   Pediatric Critical Care Medicine

XIAP Restricts TNF- and RIP3-Dependent Cell Death and Inflammasome Activation

(2014) Monica Yabal et al.   Cell Reports

Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens

(2013) DeepakBabu Chellapandian et al.   BRITISH JOURNAL OF HAEMATOLOGY

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

(2013) C. Speckmann et al.   CLINICAL IMMUNOLOGY

Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency

(2013) Taizo Wada et al.   CYTOKINE

Disease-causing mutations in the XIAPBIR2 domain impair NOD2-dependent immune signalling

(2013) Rune Busk Damgaard et al.   EMBO Molecular Medicine

Higher-dose Anakinra Is Effective in a Case of Medically Refractory Macrophage Activation Syndrome

(2013) P. J. KAHN et al.   JOURNAL OF RHEUMATOLOGY

Refractory macrophage activation syndrome in a patient with SLE and APLA syndrome – Successful use of PET- CT and Anakinra in its diagnosis and treatment

(2013) Oshrat E. Tayer-Shifman et al.   Modern Rheumatology

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

(2012) Y. T. Bryceson et al.   BLOOD

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

(2012) E. Salzer et al.   HAEMATOLOGICA

Successful treatment of macrophage activation syndrome complicating adult Still disease with anakinra

(2012) N. K. Loh et al.   INTERNAL MEDICINE JOURNAL

Rapid and Sustained Remission of Systemic Juvenile Idiopathic Arthritis-Associated Macrophage Activation Syndrome Through Treatment With Anakinra and Corticosteroids

(2012) Normi Bruck et al.   JCR-JOURNAL OF CLINICAL RHEUMATOLOGY

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

The Ubiquitin Ligase XIAP Recruits LUBAC for NOD2 Signaling in Inflammation and Innate Immunity

(2012) Rune Busk Damgaard et al.   MOLECULAR CELL

Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab

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

SLAM Family Receptors and SAP Adaptors in Immunity

(2011) Jennifer L. Cannons et al.   Annual Review of Immunology

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

Adult-onset Still’s disease with macrophage activation syndrome successfully treated with a combination of methotrexate and etanercept

(2011) Keisuke Maeshima et al.   Modern Rheumatology

Etanercept for the treatment of intractable hemophagocytic syndrome with systemic lupus erythematosus

(2011) Hirotoshi Kikuchi et al.   Modern Rheumatology

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

(2011) Feng-Yen Li et al.   NATURE

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

(2010) R. A. Marsh 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

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

Macrophage Activation Syndrome Treated with Anakinra

(2010) M. DURAND et al.   JOURNAL OF RHEUMATOLOGY

Successful treatment of severe paediatric rheumatic disease-associated macrophage activation syndrome with interleukin-1 inhibition following conventional immunosuppressive therapy: case series with 12 patients

(2010) P. M. Miettunen et al.   RHEUMATOLOGY

Successful use of infliximab in macrophage activation syndrome with severe CNS involvement

(2010) A Sellmer et al.   SCANDINAVIAN JOURNAL OF RHEUMATOLOGY

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

The Molecular Basis for Perforin Oligomerization and Transmembrane Pore Assembly

(2009) Katherine Baran et al.   IMMUNITY

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

Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency

(2009) Andrew L. Snow 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

Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Japan

(2009) Shouichi Ohga et al.   PEDIATRIC BLOOD & CANCER

A Case Report of Successful Treatment With Plasma Exchange for Hemophagocytic Syndrome Associated With Severe Systemic Juvenile Idiopathic Arthritis in an Infant Girl

(2009) Hyogo Nakakura et al.   THERAPEUTIC APHERESIS AND DIALYSIS

Retinal microangiopathy and rapidly fatal cerebral edema in a patient with adult-onset Still's disease and concurrent macrophage activation syndrome

(2008) Sara Gianella et al.   AMERICAN JOURNAL OF HEMATOLOGY

The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis

(2008) N Cooper et al.   BONE MARROW TRANSPLANTATION

Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis

(2008) K S Baker et al.   BONE MARROW TRANSPLANTATION

Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP)

(2008) S. Cesaro et al.   HAEMATOLOGICA

A case of macrophage activation syndrome successfully treated with anakinra

(2008) Alison Kelly et al.   Nature clinical practice. Rheumatology