H. Kuehn

发表

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation

Yuan Zhang, F. Rieux-Laucat, A. Fischer, 2022, Science Immunology.

Ikaros-Associated Diseases: From Mice to Humans and Back Again

S. Rosenzweig, H. Kuehn, Brigette Boast, 2021, Frontiers in Pediatrics.

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2021, Expert review of clinical immunology.

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

C. Bonroy, S. Rosenzweig, E. De Baere, 2017, The Journal of allergy and clinical immunology.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Kenneth G. C. Smith, S. Tavaré, M. Brown, 2019, The Journal of experimental medicine.

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

C. Cunningham-Rundles, W. Gahl, T. Fleisher, 2020, Blood.

Glycogen Synthase Kinase 3β Activation Is a Prerequisite Signal for Cytokine Production and Chemotaxis in Human Mast Cells

Mi‐Sun Kim, D. Metcalfe, H. Kuehn, 2009, The Journal of Immunology.

Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib.

S. Rosenzweig, H. Kuehn, L. Rider, 2019, Brain : a journal of neurology.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease

M. Netea, S. Holland, S. Rosenzweig, 2017, Open forum infectious diseases.

Activation Phenotype Stem Cell Factor Programs the Mast Cell

G. Bandara, D. Metcalfe, H. Kuehn, 2012 .

Stem Cell Factor Programs the Mast Cell Activation Phenotype

G. Bandara, D. Metcalfe, H. Kuehn, 2012, The Journal of Immunology.

Prostaglandin E2 Activates and Utilizes mTORC2 as a Central Signaling Locus for the Regulation of Mast Cell Chemotaxis and Mediator Release*

D. Metcalfe, H. Kuehn, A. Gilfillan, 2010, The Journal of Biological Chemistry.

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis and rescue by IL-21.

W. Leonard, S. Holland, C. Stratakis, 2021, The Journal of allergy and clinical immunology.

Antigen-Stimulated Mast Cells Reactive Oxygen Species in Eicosanoid Production and Generation of Activation of Btk Is Required for Optimal The Phosphoinositide 3-Kinase-Dependent

Mi‐Sun Kim, D. Metcalfe, H. Kuehn, 2008 .

The Phosphoinositide 3-Kinase-Dependent Activation of Btk Is Required for Optimal Eicosanoid Production and Generation of Reactive Oxygen Species in Antigen-Stimulated Mast Cells1

Mi‐Sun Kim, D. Metcalfe, H. Kuehn, 2008, The Journal of Immunology.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation

S. Rosenzweig, M. Tokita, M. Wright, 2021, Journal of Clinical Immunology.

Pathway in Mast Cells Activation and Function of the mTORC1

D. Metcalfe, H. Kuehn, A. Gilfillan, 2008 .

Glycogen Synthase Kinase 3b Activation Is a Prerequisite Signal for Cytokine Production and Chemotaxis in Human Mast Cells

D. Metcalfe, H. Kuehn, A. Gilfillan, 2009 .

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

B. Lambrecht, S. Rosenzweig, E. De Baere, 2017, Scientific Reports.

Generation, isolation, and maintenance of human mast cells and mast cell lines derived from peripheral blood or cord blood.

H. Kuehn, A. Gilfillan, B. M. Jensen, 2010, Current protocols in immunology.

RGS13 controls g protein-coupled receptor-evoked responses of human mast cells.

K. Druey, K. Nocka, Sudhir Rao, 2009, Journal of immunology.

RGS13 Controls G Protein-Coupled Receptor-Evoked Responses of Human Mast Cells1

K. Druey, K. Nocka, Sudhir Rao, 2008, The Journal of Immunology.

Synergistic activation of phospholipases Cgamma and Cbeta: a novel mechanism for PI3K-independent enhancement of FcepsilonRI-induced mast cell mediator release.

Mi‐Sun Kim, D. Metcalfe, H. Kuehn, 2008, Cellular signalling.

Downregulation of Wnt-Mediated ROS generation is causally implicated in leprechaunism

Soo Young Lee, H. Kuehn, J. W. Park, 2010, Molecules and cells.

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

L. Notarangelo, J. Walter, H. Ochs, 2019, Front. Pediatr..

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

J. Mullikin, E. Remmers, D. Kastner, 2016, Proceedings of the National Academy of Sciences.

This information is current as Lymphoproliferative Syndrome Mechanism in the Human Autoimmune FAS Haploinsufficiency Is a Common Disease

J. B. Oliveira, Joie Davis, T. Fleisher, 2011 .

Distinct PGE2-responder and non-responder phenotypes in human mast cell populations: "all or nothing" enhancement of antigen-dependent mediator release.

D. Metcalfe, H. Kuehn, A. Gilfillan, 2011, Immunology letters.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

M. Snyder, D. Lewis, C. Stratakis, 2017, Blood.

Measuring Mast Cell Mediator Release

H. Kuehn, A. Gilfillan, M. Rådinger, 2010, Current protocols in immunology.

Btk-dependent Rac activation and actin rearrangement following FcεRI aggregation promotes enhanced chemotactic responses of mast cells

B. Vanhaesebroeck, K. Ali, D. Metcalfe, 2010, Journal of Cell Science.

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID

L. Notarangelo, S. Rosenzweig, H. Kuehn, 2017, Journal of Clinical Immunology.

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

F. Rieux-Laucat, S. Tangye, M. Haimel, 2021, Blood advances.

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation

L. Notarangelo, K. Dobbs, S. Rosenzweig, 2022, Journal of Clinical Immunology.

TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

J. Burnham, D. Kastner, S. Rosenzweig, 2021, The Journal of allergy and clinical immunology.

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

C. Klein, S. Rosenzweig, H. Kuehn, 2020, Journal of pediatric hematology/oncology.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

S. Rosenzweig, A. Stray-Pedersen, D. Boutboul, 2019, The Journal of allergy and clinical immunology.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2021, Journal of Clinical Immunology.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2021, Journal of Clinical Immunology.

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation.

S. Holland, S. Rosenzweig, H. Kuehn, 2014, The Journal of allergy and clinical immunology.

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

M. Hernandez, T. Hohl, S. Rosenzweig, 2015, PLoS pathogens.

Progressive B Cell Loss in Revertant X-SCID

Timothy J Keyes, K. Davis, Astraea Jager, 2020, Journal of Clinical Immunology.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

J. B. Oliveira, J. Hughes, J. McElwee, 2014, Science.

Activation and Function of the mTORC1 Pathway in Mast Cells1

Mi‐Sun Kim, D. Metcalfe, H. Kuehn, 2008, The Journal of Immunology.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

J. Mullikin, D. Kastner, Dan Yang, 2019, Nature.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

L. Notarangelo, D. Kastner, S. Rosenzweig, 2019, Front. Immunol..

Activated STING in a vascular and pulmonary syndrome.

Ha Won Kim, J. Hughes, J. McElwee, 2014, The New England journal of medicine.

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

E. Meffre, T. Fleisher, S. Rosenzweig, 2014, Pediatric Rheumatology.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

J. B. Oliveira, S. Pittaluga, S. Holland, 2013, Nature Immunology.

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

S. Pittaluga, S. Rosenzweig, M. Crank, 2014, Journal of Clinical Immunology.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome

J. B. Oliveira, Joie Davis, T. Fleisher, 2011, The Journal of Immunology.

7 FAS HAPLOINSUFFICIENCY IS A COMMON DISEASE MECHANISM IN THE HUMAN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

J. B. Oliveira, Joie Davis, T. Fleisher, 2011 .

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

J. B. Oliveira, S. Rosenzweig, H. Kuehn, 2015, Journal of Clinical Immunology.

A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice

T. Andrews, S. Rosenzweig, L. Miosge, 2021, The Journal of Immunology.

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

M. Varjosalo, S. Rosenzweig, N. Rezaei, 2021, Science Immunology.

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

Ryan M. Baxter, T. Morio, T. Fleisher, 2021, The Journal of experimental medicine.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Kam Y. J. Zhang, J. Casanova, O. Ohara, 2021, Nature Immunology.

Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

A. Fischer, H. Kanegane, C. Picard, 2018, The Journal of clinical investigation.

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020, Immunology and allergy clinics of North America.

IKAROS-associated diseases in primary immunodeficiency patients

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020 .

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

A. Gennery, S. Rosenzweig, K. Voelkerding, 2018, Nature Communications.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

J. Mullikin, H. Kong, V. Pascual, 2014, The New England journal of medicine.

The expansion of human T-bethighCD21low B cells is T cell dependent

J. Casanova, M. Boerries, M. van der Burg, 2021, Science Immunology.

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

T. Fleisher, S. Rosenzweig, H. Kuehn, 2016, Journal of Clinical Immunology.

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

T. Fleisher, S. Rosenzweig, H. Kuehn, 2016, Journal of Clinical Immunology.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

L. Notarangelo, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

Michael T. Zimmermann, Nikita R. Dsouza, L. Notarangelo, 2020, Journal of clinical immunology.

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

U. Pannicke, K. Schwarz, J. Casanova, 2023, Science Immunology.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

T. Fleisher, S. Rosenzweig, A. Puel, 2021, Journal of Clinical Immunology.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

T. Fleisher, S. Rosenzweig, A. Puel, 2021, Journal of Clinical Immunology.

Patients with NK cell chronic active EBV have immature NK cells and hyperactivation of PI3K/Akt/mTOR and STAT1 pathways.

Eric O Long, S. Rosenzweig, A. Hsu, 2020, The Journal of infectious diseases.

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant

O. Ramilo, A. Mejias, M. Ardura, 2020, Journal of Allergy and Clinical Immunology.

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

J. B. Oliveira, S. Pittaluga, T. Fleisher, 2013, Blood.

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

S. Pittaluga, E. Meffre, S. Hewitt, 2022, Nature Communications.

MUTATIONS IN THE TYROSINE-PROTEIN KINASE LYN CAUSE AN EARLY-ONSET NEUTROPHILIC VASCULITIS SYNDROME

E. Meffre, S. Hewitt, D. Kleiner, 2017 .

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

J. B. Oliveira, D. Kleiner, S. Rosenzweig, 2015, Journal of Clinical Immunology.

G Protein-coupled receptors and the modification of FcεRI-mediated mast cell activation

H. Kuehn, A. Gilfillan, 2007 .

G protein-coupled receptors and the modification of FcepsilonRI-mediated mast cell activation.

H. Kuehn, A. Gilfillan, 2007, Immunology letters.

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020, Journal of Clinical Immunology.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

S. Holland, S. Rosenzweig, E. Sampaio, 2019, Front. Immunol..

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

J. Casanova, S. Pittaluga, L. Notarangelo, 2023, Nature communications.

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

S. Rosenzweig, H. Kuehn, Brigette Boast, 2022, Clinical and experimental immunology.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

B. Lambrecht, S. Rosenzweig, H. Kuehn, 2017, Scientific Reports.

Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3

S. Rosenzweig, S. Nicholas, I. Chinn, 2021, Journal of clinical immunology.

Editorial: The role of transcription factors in inborn errors of immunity

H. Kuehn, D. Bogaert, F. Haerynck, 2023, Frontiers in Immunology.

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

S. Rosenzweig, L. Forbes, H. Kuehn, 2019, Journal of Clinical Immunology.

Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization.

S. Rosenzweig, J. Milner, H. Kuehn, 2020, The journal of allergy and clinical immunology. In practice.

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

S. Pittaluga, M. Crank, A. Agharahimi, 2014, Journal of Clinical Immunology.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

J. Franco, C. Cunningham-Rundles, T. Fleisher, 2020, Journal of Clinical Immunology.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

M. Snyder, C. Stratakis, T. Fleisher, 2017, Blood.

Activation Phenotype Stem Cell Factor Programs the Mast Cell

G. Bandara, D. Metcalfe, H. Kuehn, 2012 .

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

S. Rosenzweig, H. Kuehn, I. Aksentijevich, 2020, Journal of clinical immunology.

This information is current as Activation Phenotype Stem Cell Factor Programs the Mast Cell Gilfillan

G. Bandara, D. Metcalfe, H. Kuehn, 2012 .

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

K. Dobbs, B. Boisson, J. Toguchida, 2024, Nature immunology.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

D. Kastner, C. Biben, S. Rosenzweig, 2019, Nature.