ArticleNature immunology2018
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
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Article in Nature immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 3 of them syntheses that pooled it.
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71citing papers in PubMed, 3 pooled it
6.4field-weighted citation impact, top 3% of its field
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Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.Journal of clinical immunology · 2020Pooled it
- LSD1 Promotes Immune Exclusion and Suppresses IFN-γ-Associated Transcriptional Programs in Triple-Negative Breast Cancer.Cancers · 2026Article
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Persistent Increased Plasmacytoid Dendritic Cells and Inflammation in People With HIV Years After Tuberculosis.The Journal of infectious diseases · 2026Article
- Epithelial redox stress programs macrophage immunometabolism through a ZNF24-MIF-NF-κB pathway in chronic nonbacterial prostatitis.Redox biology · 2026Article
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Structural insights into human signal peptide peptidase.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Review
- Abundant Yet Aberrant T Helper Cell Responses to Candida albicans Underlie Mucosal Candidiasis in Humans and Mice.European journal of immunology · 2025Article
- A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.The Journal of allergy and clinical immunology · 2025Article
- Human LY9 governs CD4Science immunology · 2025Article
- One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.Blood · 2025Article
- Type 2 conventional dendritic cell functional heterogeneity: ontogenically committed or environmentally plastic?Trends in immunology · 2025Review
- Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization.Frontiers in immunology · 2025Article
- FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.Cell · 2024Article
- Orthogonal multimodality integration and clustering in single-cell data.BMC bioinformatics · 2024Article
- Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.Pathogens (Basel, Switzerland) · 2024Review
- Exploration of the mechanism of reinfusion of fresh autologous blood in type 2 diabetes mice to induce macrophage polarization and inhibit erythrocyte damage.Journal of diabetes investigation · 2024Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
41 authors at 18 institutions in 11 countries.
Xiao-Fei KongSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Ruben Martinez-BarricarteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.ORCID http://orcid.org/0000-0001-7925-449X
James KennedyDepartment of Biochemistry, McGill University, Montreal, Quebec, Canada.
Federico MeleCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland, Bellinzona, Switzerland.
Tomi LazarovImmunology Program, Memorial Sloan Kettering Cancer Center, New York , NY, USA.
Elissa K DeenickImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9271-0004
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Gaëlle BretonLaboratory of Molecular Immunology, The Rockefeller University, New York , NY, USA.
Kimberly B LuceroDepartment of Microbiology and Immunology, Columbia University Medical Center, New York , NY, USA.
David LanglaisDepartment of Biochemistry, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-4429-0110
Aziz BousfihaLaboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
Caner AytekinDepartment of Pediatric Immunology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.ORCID http://orcid.org/0000-0002-2921-5270
Janet MarkleSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Céline TrouilletImmunology Program, Memorial Sloan Kettering Cancer Center, New York , NY, USA.
Fabienne Jabot-HaninLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID http://orcid.org/0000-0001-9294-7135
Cecilia S Lindestam ArlehamnLa Jolla Institute for Allergy and Immunology, La Jolla, CA, USA.
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Capucine PicardParis Descartes University, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0001-8788-5056
Théo LasseauSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Daniela LatorreCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland, Bellinzona, Switzerland.
Sophie HambletonPrimary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0001-7954-3267
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Yuval ItanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Katia AbarcaDepartment of Pediatric Infectious Diseases and Immunology, Millennium Institute of Immunology and Immunotherapy, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
Dewton Moraes-VasconcelosLaboratory of Investigation in Dermatology and Immunodeficiencies, University of Sao Paulo Medical School, Sao Paulo, Brazil.
Fatima AilalLaboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
Aydan IkinciogullariDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Figen DoguDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Ibtihal BenhsaienLaboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
Alessandro SetteLa Jolla Institute for Allergy and Immunology, La Jolla, CA, USA.
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Bernd SchröderBiochemical Institute, Christian Albrechts University of Kiel, Kiel, Germany.
Michel C NussenzweigLaboratory of Molecular Immunology, The Rockefeller University, New York , NY, USA.
Kang LiuDepartment of Microbiology and Immunology, Columbia University Medical Center, New York , NY, USA.
Frédéric GeissmannImmunology Program, Memorial Sloan Kettering Cancer Center, New York , NY, USA.ORCID http://orcid.org/0000-0001-5029-2468
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID http://orcid.org/0000-0002-5360-5180
Philippe GrosDepartment of Biochemistry, McGill University, Montreal, Quebec, Canada.
Federica SallustoCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland, Bellinzona, Switzerland.ORCID http://orcid.org/0000-0003-3750-2752
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York , NY, USA. casanova@rockefeller.edu.ORCID http://orcid.org/0000-0002-7782-4169
Rockefeller University · USGarvan Institute of Medical Research · AUInserm · FRMcGill University · CAMemorial Sloan Kettering Cancer Center · USUniversity of Hassan II Casablanca · MAAnkara University · TRColumbia University Irving Medical Center · USHôpital Necker-Enfants Malades · FRHoward Hughes Medical Institute · USLa Jolla Institute for Immunology · USUniversità della Svizzera italiana · CHChristian-Albrechts-Universität zu Kiel · DEETH Zurich · CHMinistry of Health · TRNewcastle University · GBPontificia Universidad Católica de Chile · CLUniversidade de São Paulo · BR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MSingle-cell atlas of lung tissue-resident memory T cells reactive to upper and lower respiratory tract pathogensU19AI118626 · NIAID · LA JOLLA INSTITUTE FOR IMMUNOLOGY · PI Alessandro Sette · 2015 to 2026
$36.7MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MMacrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MLineages and pathophysiology of clonal histiocytic disordersR01HL138090 · NHLBI · SLOAN-KETTERING INST CAN RESEARCH · PI GEISSMANN, FREDERIC · 2017 to 2020
$2.9MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MNRAMP1 IN MACROPHAGE DEFENCES AGAINST INFECTIONSR01AI035237 · NIAID · MCGILL UNIVERSITY · PI GROS, PHILIPPE · 1993 to 2015
$2.3MEuropean Research Council 323183NCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NHLBI NIH HHS R01 HL138090NIAID NIH HHS R01 AI035237NIAID NIH HHS R01 AI089970NIAID NIH HHS R01 AI130345NIAID NIH HHS R37 AI095983NIAID NIH HHS U19 AI118626Swiss National Science Foundation 170213
Abstract
Human inborn errors of IFN-γ immunity underlie mycobacterial diseases. We describe patients with Mycobacterium bovis (BCG) disease who are homozygous for loss-of-function mutations of SPPL2A. This gene encodes a transmembrane protease that degrades the N-terminal fragment (NTF) of CD74 (HLA invariant chain) in antigen-presenting cells. The CD74 NTF therefore accumulates in the HLA class II
Indexed as
AnimalsAntigens, Differentiation, B-LymphocyteAspartic Acid EndopeptidasesCells, CulturedDendritic CellsHistocompatibility Antigens Class IIHLA AntigensHumansImmunityImmunologic MemoryInfantInterferon-gammaLymphadenopathyMaleMembrane ProteinsMiceAntigens, Differentiation, B-LymphocyteAspartic Acid EndopeptidasesHistocompatibility Antigens Class IIHLA AntigensInterferon-gammainvariant chainMembrane ProteinsSPPL2a protein, humanSPPL2a protein, mouse
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