The genetics of macrophage activation syndrome

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

(2020) Conor Gruber et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies

(2019) Trine H. Mogensen   Frontiers in Immunology

An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

(2019) Alessia Arduini et al.   Pediatric Rheumatology

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

(2019) Guo-min Li et al.   BMC Medical Genetics

Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition

(2019) Yael Gernez et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

(2019) Erica F. Sanford et al.   Pediatric Critical Care Medicine

A Multicenter Network Assessment of Three Inflammation Phenotypes in Pediatric Sepsis-Induced Multiple Organ Failure

(2019) Joseph A. Carcillo et al.   Pediatric Critical Care Medicine

To “lump” or to “split” in Macrophage Activation Syndrome and Hemophagocytic Lymphohistiocytosis

(2019) Sarah Nikiforow et al.   Arthritis & Rheumatology

Benefit of Anakinra in Treating Pediatric Secondary Hemophagocytic Lymphohistiocytosis

(2019) Esraa M. Eloseily et al.   Arthritis & Rheumatology

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

(2019) Michael T. Lam et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care*

(2019) Kate F. Kernan et al.   Pediatric Critical Care Medicine

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

(2019) Christopher J. A. Duncan et al.   Science Immunology

HLH: genomics illuminates pathophysiological diversity

(2018) Bianca Tesi et al.   BLOOD

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

(2018) Ivan K. Chinn et al.   BLOOD

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1 , UNC13D , STX11 , STXBP2 , SH2D1A , and XIAP

(2018) X. Chen et al.   CLINICAL GENETICS

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

(2018) Kate F. Kernan et al.   GENES AND IMMUNITY

Convergent pathways of the hyperferritinemic syndromes

(2018) Grant S Schulert et al.   INTERNATIONAL IMMUNOLOGY

Macrophage activation syndrome in adults: recent advances in pathophysiology, diagnosis and treatment

(2018) Stuart J Carter et al.   RHEUMATOLOGY

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

(2018) Stéphanie Humblet-Baron et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

(2018) Seraina Prader et al.   Frontiers in Immunology

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database

(2017) Esther van de Vosse et al.   HUMAN MUTATION

Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease

(2017) Robin Willenbring et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition

(2017) Scott W. Canna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

(2017) Wladimir Mauhin et al.   Orphanet Journal of Rare Diseases

Three Hypothetical Inflammation Pathobiology Phenotypes and Pediatric Sepsis-Induced Multiple Organ Failure Outcome*

(2017) Joseph A. Carcillo et al.   Pediatric Critical Care Medicine

Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome

(2017) Claudia Bracaglia et al.   Pediatric Rheumatology

NEMO Links Nuclear Factor-κB to Human Diseases

(2017) Gunter Maubach et al.   TRENDS IN MOLECULAR MEDICINE

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

(2017) Ivona Aksentijevich et al.   Frontiers in Immunology

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

(2017) Aidé Tamara Staines-Boone et al.   Frontiers in Pediatrics

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

(2016) Michael J Ombrello et al.   ANNALS OF THE RHEUMATIC DISEASES

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

(2016) J.-F. Emile et al.   BLOOD

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice

(2016) F. E. Sepulveda et al.   BLOOD

Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers

(2016) Jeffrey I. Cohen et al.   CLINICAL INFECTIOUS DISEASES

Interleukin-1 Receptor Blockade Is Associated With Reduced Mortality in Sepsis Patients With Features of Macrophage Activation Syndrome

(2016) Bita Shakoory et al.   CRITICAL CARE MEDICINE

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

(2016) Silvia Ricci 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

A HeterozygousRAB27AMutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis

(2016) Mingce Zhang et al.   JOURNAL OF IMMUNOLOGY

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

(2016) Nienke M. ter Haar et al.   Arthritis & Rheumatology

Pathogenesis of Macrophage Activation Syndrome and Potential for Cytokine- Directed Therapies

(2015) Grant S. Schulert et al.   Annual Review of Medicine

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

(2015) W. A. Spessott et al.   BLOOD

GATA2 deficiency

(2015) Amy P. Hsu et al.   Current Opinion in Allergy and Clinical Immunology

Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals

(2015) Imran G House et al.   IMMUNOLOGY AND CELL BIOLOGY

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

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

(2015) Bianca Tesi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Failed CTL/NK cell killing and cytokine hypersecretion are directly linked through prolonged synapse time

(2015) Misty R. Jenkins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Kill or Be Killed

(2015) Edward M. Behrens et al.   JOURNAL OF IMMUNOLOGY

Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza

(2015) Grant S. Schulert et al.   JOURNAL OF INFECTIOUS DISEASES

Does Viral Hemorrhagic Fever Represent Reactive Hemophagocytic Syndrome?

(2015) R. Q. CRON et al.   JOURNAL OF RHEUMATOLOGY

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

(2015) Qing Zhou et al.   NATURE GENETICS

XIAP deficiency syndrome in humans

(2015) Sylvain Latour et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

(2014) K. Zhang et al.   BLOOD

An inherited mutation inNLRC4causes autoinflammation in human and mice

(2014) Akiko Kitamura et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Chronic Granulomatous Disease Presenting as Hemophagocytic Lymphohistiocytosis: A Case Report

(2014) Gregory Valentine et al.   PEDIATRICS

Genetic Defects in Cytolysis in Macrophage Activation Syndrome

(2014) Mingce Zhang et al.   Current Rheumatology Reports

Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A Multinational, Multicenter Study of 362 Patients

(2014) Francesca Minoia et al.   Arthritis & Rheumatology

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

(2013) Taizo Wada et al.   CYTOKINE

A Case of Macrophage Activation Syndrome Developing in a Patient With Chronic Granulomatous Disease-associated Colitis

(2013) Kazuko Akagi et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Reaching the Threshold: A Multilayer Pathogenesis of Macrophage Activation Syndrome

(2013) R. Strippoli et al.   JOURNAL OF RHEUMATOLOGY

Graded Defects in Cytotoxicity Determine Severity of Hemophagocytic Lymphohistiocytosis in Humans and Mice

(2013) Birthe Jessen et al.   Frontiers in Immunology

Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles

(2012) Masaki Shimizu et al.   CYTOKINE

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

(2012) E. Salzer et al.   HAEMATOLOGICA

Making Sense of the Cytokine Storm: A Conceptual Framework for Understanding, Diagnosing, and Treating Hemophagocytic Syndromes

(2012) Scott W. Canna et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Familial and Acquired Hemophagocytic Lymphohistiocytosis

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

Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol

(2011) H. Trottestam et al.   BLOOD

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

(2011) K. Zhang et al.   BLOOD

Hemophagocytic lymphohistiocytosis

(2011) Kimberly Risma et al.   CURRENT OPINION IN PEDIATRICS

Intravenous Immunoglobulin Treatment for Macrophage Activation Syndrome Complicating Chronic Granulomatous Disease

(2011) Aristóteles Álvarez-Cardona et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children

(2011) Masakatsu Yanagimachi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis

(2011) M. YANAGIMACHI et al.   JOURNAL OF RHEUMATOLOGY

Pathogenesis of systemic juvenile idiopathic arthritis: some answers, more questions

(2011) Elizabeth D. Mellins et al.   Nature Reviews Rheumatology

Autopsy Findings in Eight Patients With Fatal H1N1 Influenza

(2010) Paul W. Harms et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

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 syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma

(2010) Nima Rezaei et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2010) P. Stepensky et al.   HAEMATOLOGICA

Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease

(2010) Chintan Parekh et al.   PEDIATRIC BLOOD & CANCER

Viral infections associated with haemophagocytic syndrome

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

Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis

(2010) Koichi Murata et al.   ARTHRITIS RESEARCH & THERAPY

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of 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

CD27 sustains survival of CTLs in virus-infected nonlymphoid tissue in mice by inducing autocrine IL-2 production

(2009) Victor Peperzak et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis

(2009) Sebastiaan J. Vastert et al.   RHEUMATOLOGY

Mutations of the hemophagocytic lymphohistiocytosis–associated geneUNC13D in a patient with systemic juvenile idiopathic arthritis

(2008) Melissa M. Hazen et al.   ARTHRITIS AND RHEUMATISM

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms

(2008) Kejian Zhang et al.   ARTHRITIS AND RHEUMATISM

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

(2008) Bryn H. Salt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant

(2008) Joris M. van Montfrans et al.   PEDIATRIC BLOOD & CANCER