ArticleThe Journal of experimental medicine2016
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
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Article in The Journal of experimental medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
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71citing papers in PubMed, 1 pooled it
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71 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
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- A CARMIL2 gain-of-function mutation suffices to trigger most CD28 costimulatory functions in vivo.The Journal of experimental medicine · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
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- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
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- Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling.Immunity · 2024Article
- Genetic causes of primary immunodeficiency in the Jordanian population.Biomedical reports · 2024Article
- TThe Journal of allergy and clinical immunology · 2024Review
- Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both?Molecular and cellular pediatrics · 2024Review
- Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Article
- Defective LAT signalosome pathology in mice mimics human IgG4-related disease at single-cell level.The Journal of experimental medicine · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.The Journal of experimental medicine · 2023Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
36 authors at 11 institutions in 6 countries.
Yi WangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0002-1985-3404
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.
Yun LingLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Aziz BousfihaClinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.
Yildiz CamciogluDivision of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0002-4796-6828
Serge JacquotImmunology Unit, Rouen University Hospital, 76031 Rouen, France.ORCID 0000-0002-9017-8368
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.ORCID 0000-0003-3311-5210
Elena CrestaniDivision of Immunology, Boston Children's Hospital, Boston, MA 02115.
Romain RoncagalliCenter for Immunology Marseille-Luminy, 13288 Marseille, France.ORCID 0000-0001-7554-0552
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0002-8488-9737
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0003-0146-9428
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0001-6648-8684
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Etienne PatinHuman Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.
Quentin B VincentLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Ingrid Müller-FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Bernhard FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.ORCID 0000-0002-4687-469X
Fatima AilalClinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.ORCID 0000-0001-5824-3193
Lluis Quintana-MurciHuman Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.
Sylvie FraitagDepartment of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Marie-Alexandra AlyanakianImmunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Marianne Leruez-VilleVirology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36-20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Capucine PicardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0003-2603-0323
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Marie MalissenCenter for Immunology Marseille-Luminy, 13288 Marseille, France.ORCID 0000-0003-2331-1445
Bernard MalissenCenter for Immunology Marseille-Luminy, 13288 Marseille, France.ORCID 0000-0003-1340-9342
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0001-7016-6493
Alain HovnanianLaboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Luigi D NotarangeloDivision of Immunology, Boston Children's Hospital, Boston, MA 02115.ORCID 0000-0002-8335-0262
Emmanuelle JouanguyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.ORCID 0000-0002-5360-5180
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France vivien.beziat@inserm.fr.ORCID 0000-0002-4020-824X
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.ORCID 0000-0002-7782-4169
Inserm · FRCentre d’Immunologie de Marseille-Luminy · FRGarvan Institute of Medical Research · AUAssistance Publique – Hôpitaux de Paris · FRBoston Children's Hospital · USCentre National de la Recherche Scientifique · FRFriedrich-Alexander-Universität Erlangen-Nürnberg · DEUniversity of Hassan II Casablanca · MADélégation Paris 5 · FRHoward Hughes Medical Institute · USIstanbul University · TR
Funding
MOLECULAR BASIS OF ALLERGIC AND IMMUNOLOGIC DISEASET32AI007512 · NIAID · CHILDREN'S HOSPITAL BOSTON · PI Janet Chou, Peter A Nigrovic · 1996 to 2026
$13.1MModeling and correcting human SCID using patient-derived iPS cellsR01AI100887 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI MANIS, JOHN P · 2012 to 2020
$4.5MNIAID NIH HHS R01 AI100887NIAID NIH HHS T32 AI007512
Abstract
Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell-intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologue of which is essential for CD28 signaling. The patients have cutaneous and pulmonary allergy, as well as a variety of bacterial and fungal infectious diseases, including invasive tuberculosis and mucocutaneous candidiasis. Proportions of circulating regulatory T cells and memory CD4
Indexed as
AllelesAdolescentAdultBase SequenceB-LymphocytesCD28 AntigensCD4-Positive T-LymphocytesCell DifferentiationCell ProliferationCell SurvivalChildChild, PreschoolDimerizationFemaleHEK293 CellsHumansCARMIL1 protein, humanCD28 AntigensMicrofilament ProteinsNF-kappa BReceptors, Antigen, B-Cell
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.