ArticleScience (New York, N.Y.)2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
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Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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59citing papers in PubMed
5.0field-weighted citation impact, top 4% of its field
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Who cites it
59 citing papers in PubMed, 98 citations in OpenAlex.
- Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.Nature immunology · 2022Trial
- CYFIP2 deficiency ameliorates renal interstitial fibrosis through attenuating tubular senescence in hypertensive nephropathy.Acta pharmacologica Sinica · 2026Article
- Using CRISPR/Cas9 to investigate the role of candidate human disease gene orthologs in Ciona.bioRxiv : the preprint server for biology · 2026Article
- Article
- Hematopoietic stem cell transplantation as a curative treatment for Nck-associated protein 1-like (HEM1) deficiency: A first case report.Journal of human immunity · 2026Article
- Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.Nature reviews. Immunology · 2026Review
- Persistent myeloid cell reprogramming despite miltefosine treatment in leishmania-infected macaques.iScience · 2025Article
- Branched actin networks mediate macrophage-dependent host-microbiota homeostasis.Science (New York, N.Y.) · 2025Article
- Hem1 controls T cell activation, memory, and the regulated release of immunosuppressive and proinflammatory cytokines.JCI insight · 2025Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.Brain, behavior, & immunity - health · 2025Article
- HNF3α Targets Nckap1l and Promotes Renal Fibrosis Following Ischemia-Reperfusion Injury.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Bioinformatics Approach to Investigating the Immuno-Inflammatory Mechanisms of Periodontitis in the Progression of Atherosclerosis.Current issues in molecular biology · 2025Article
- Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg.Paediatrics & child health · 2025Article
- The WAVE complex in developmental and adulthood brain disorders.Experimental & molecular medicine · 2025Review
- Integrated proteomics and scRNA-seq analyses of ovarian cancer reveal molecular subtype-associated cell landscapes and immunotherapy targets.British journal of cancer · 2025Article
- Disulfidptosis: a novel cell death modality induced by actin cytoskeleton collapse and a promising target for cancer therapeutics.Cell communication and signaling : CCS · 2024Review
- Germline mutations in a G protein identify signaling cross-talk in T cells.Science (New York, N.Y.) · 2024Article
- TThe Journal of allergy and clinical immunology · 2024Review
- Article
Corrections and comments
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Authors and funding
39 authors at 18 institutions in 5 countries.
Sarah A Cook *Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.ORCID 0000-0002-2923-4009
William A Comrie *Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.ORCID 0000-0003-1173-1127
M Cecilia PoliDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6817-0573
Morgan SimilukDivision of Intramural Research, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-0403-2689
Andrew J OlerBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-6310-0434
Aiman J FaruqiMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.ORCID 0000-0002-4421-3767
Douglas B KuhnsNeutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA.ORCID 0000-0002-9971-0760
Sheng YangRoy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA.ORCID 0000-0002-0321-3728
Alexander Vargas-HernándezDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Alexandre F CariseyDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-1326-2205
Benjamin FournierLaboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.ORCID 0000-0002-4189-996X
D Eric AndersonAdvanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.ORCID 0000-0002-6838-0201
Susan PriceLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-1004-8441
Margery SmelkinsonBiological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0001-7777-5574
Wadih Abou ChahlaDepartment of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France.ORCID 0000-0002-8170-0951
Lisa R ForbesDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-9402-1934
Emily M MaceDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-0226-7393
Tram N CaoDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Zeynep H Coban-AkdemirBaylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.ORCID 0000-0001-9928-9032
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-6674-0074
Donna M MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-3055-0359
Richard A GibbsBaylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.ORCID 0000-0002-1356-5698
James R LupskiBaylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.ORCID 0000-0001-9907-9246
Jordan S OrangeDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0001-7117-7725
Geoffrey D E CuvelierSection of Pediatric Hematology/Oncology/BMT, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada.ORCID 0000-0003-4493-8757
Moza Al HassaniSheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.
Nawal Al KaabiSheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.
Zain Al YafeiSheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.
Soma JyonouchiDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nikita RajeDivision of Allergy, Immunology, Pulmonary, and Sleep Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Jason W CaldwellSection of Pulmonary, Critical Care, Allergy and Immunological Diseases, Wake Forest University School of Medicine, Winston-Salem, NC, USA.ORCID 0000-0003-4617-8982
Yanping HuangDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Janis K BurkhardtDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-8176-1375
Sylvain LatourLaboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.ORCID 0000-0001-8238-4391
Baoyu ChenRoy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA.ORCID 0000-0002-6366-159X
Gehad ElGhazaliSheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates.
V Koneti RaoLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-7881-6902
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5684-5457
Michael J LenardoMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. lenardo@nih.gov.ORCID 0000-0003-1584-468X
Baylor College of Medicine · USShaikh Khalifa Medical City · AEChildren's Hospital of Philadelphia · USNational Institute of Allergy and Infectious Diseases · USColumbia University Irving Medical Center · USDélégation Paris 5 · FRIowa State University · USNational Institutes of Health · USCancerCare Manitoba · CAChildren's Mercy Hospital · USHôpital Jeanne de Flandre · FRLeidos (United States) · USNational Institute of Diabetes and Digestive and Kidney Diseases · USNaval Research Laboratory Information Technology DivisionOffice of Extramural Research · USSensei Biotherapeutics (United States) · USUniversidad del Desarrollo · CLWake Forest University · US
Funding
Advanced Mass Spectrometry FacilityZICDK062009 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI ANDERSON, DAVID · 2009 to 2025
$26.4MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MGENE REGULATORY EVENTS IN ESTABLISHING MATURE T CELL TOLERANCEZIAAI000566 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$11.4MClinical, Immunological and Genetic Analyses of ALPS and Related Immunedysregulatory DisordersZIAAI000732 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI RAO, V KONETI · 2009 to 2025
$10.5MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MSignal Integration from Membranes to the Actin CytoskeletonR35GM128786 · NIGMS · UT SOUTHWESTERN MEDICAL CENTER · PI Baoyu Chen · 2018 to 2026
$3.6MCytoskeletal Remodeling During T Cell ActivationR01AI065644 · NIAID · CHILDREN'S HOSP OF PHILADELPHIA · PI BURKHARDT, JANIS K. · 2007 to 2011
$2.0MDirecting Function at the Natural Killer Cell Secretory Immunological SynapseR37AI067946 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Jordan Scott Orange · 2024 to 2026
$1.5MGENE REGULATORY EVENTS IN T CELL TOLERANCE AND THYMIC T CELL MATURATIONZ01AI000566 · NIAID · NIAID EXTRAMURAL ACTIVITIES · PI LENARDO, MICHAEL J · 1990 to 2008
$1.4MHuman CD55 deficiency as a novel monogenic cause of Inflammatory Bowel DiseaseFI2GM119979 · NIGMS · U.S. NATIONAL INST ALLERGY & INFECT DIS · PI COMRIE, WILLIAM ANDREW · 2016 to 2016
–CCR NIH HHS HHSN261200800001CIntramural NIH HHS Z01 AI000566NCI NIH HHS HHSN261200800001ENHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI065644NIAID NIH HHS R01 AI120989NIAID NIH HHS R37 AI067946NIGMS NIH HHS FI2 GM119979NIGMS NIH HHS R35 GM128786
Abstract
Immunodeficiency often coincides with hyperactive immune disorders such as autoimmunity, lymphoproliferation, or atopy, but this coincidence is rarely understood on a molecular level. We describe five patients from four families with immunodeficiency coupled with atopy, lymphoproliferation, and cytokine overproduction harboring mutations in
Indexed as
ActinsADP-Ribosylation Factor 1CD4-Positive T-LymphocytesCell ProliferationCytokinesHumansImmunologic Deficiency SyndromesLymphoproliferative DisordersMechanistic Target of Rapamycin Complex 2Membrane ProteinsPedigreePhosphorylationWiskott-Aldrich Syndrome Protein FamilyActinsADP-Ribosylation Factor 1ARF1 protein, humanCytokinesMechanistic Target of Rapamycin Complex 2Membrane ProteinsNCKAP1L protein, humanWASF1 protein, humanWASF2 protein, humanWASF3 protein, humanWiskott-Aldrich Syndrome Protein Family
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