ArticleeLife2018
IRF4 haploinsufficiency in a family with Whipple's disease.
Open access · goldAbstract read
In one paragraph
Article in eLife, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 1 pooled it
4.8field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- IRF4 p.T95R combined immunodeficiency: Clinical features and transplant outcomes.Journal of human immunity · 2026Article
- Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Deciphering whipple's disease complexity.Clinical and experimental medicine · 2026Review
- IRF4 haploinsufficiency in a multiplex family with Whipple's disease.Journal of human immunity · 2026Article
- Human genetics of Whipple's disease.Current opinion in rheumatology · 2025Review
- A Family at War-AgainstOpen forum infectious diseases · 2025Article
- Cutting Edge: Cooperative interferon regulatory factor network shapes the NK-cell antiviral response.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Tropheryma whipplei Infections, Mexico, 2019-2021.Emerging infectious diseases · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Successful Management of Whipple's Disease in a 46-Year-Old British Woman: A Case Report.Cureus · 2025Article
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- Control of nutrient uptake by IRF4 orchestrates innate immune memory.Nature immunology · 2023Article
- A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.The Journal of experimental medicine · 2023Article
- Article
- A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.Science immunology · 2023Article
- Human inborn errors of immunity associated with IRF4.Frontiers in immunology · 2023Review
- An arrayed CRISPR screen of primary B cells reveals the essential elements of the antibody secretion pathway.Frontiers in immunology · 2023Article
Corrections and comments
- Commented on by
Authors and funding
35 authors at 9 institutions in 4 countries.
Antoine GuérinLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0001-6810-1607
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0003-0146-9428
Nico MarrSidra Medicine, Doha, Qatar.
Janet G MarkleSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Florence FenollarResearch Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Natalie WongImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Sabri BoughorbelSidra Medicine, Doha, Qatar.
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Salim BougarnSidra Medicine, Doha, Qatar.
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Erika Della MinaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0001-8733-7623
Carmen Oleaga-QuintasLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Tomi LazarovImmunology Program, Memorial Sloan Kettering Cancer Center, New York, United States.
Lisa WorleyImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Tina NguyenImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Etienne PatinHuman Evolutionary Genetics Unit, Department of Genomes and Genetics, Institut Pasteur, Paris, France.
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Rubén Martinez-BarricarteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Soraya BoucheritLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Xavier AyralRheumatology Unit, Cochin Hospital, Paris, France.
Sophie EdouardResearch Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Vimel RattinaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Benedetta BigioSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Guillaume VogtImagine Institute, Paris Descartes University, Paris, France.
Frédéric GeissmannImmunology Program, Memorial Sloan Kettering Cancer Center, New York, United States.
Lluis Quintana-MurciHuman Evolutionary Genetics Unit, Department of Genomes and Genetics, Institut Pasteur, Paris, France.
Damien ChaussabelSidra Medicine, Doha, Qatar.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
Didier RaoultResearch Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0002-3439-2482
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0002-7782-4169
Inserm · FRGarvan Institute of Medical Research · AUCentre National de la Recherche Scientifique · FRQatar Airways (Qatar) · QARockefeller University · USMemorial Sloan Kettering Cancer Center · USHôpital Cochin · FRHoward Hughes Medical Institute · USUniversité Paris Cité · FR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MRegulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8MMacrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MEuropean Research Council 281297NCI NIH HHS P30 CA008748NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI089970NIAID NIH HHS R01 AI130345NIH HHS 5R01AI089970-02
Abstract
Most humans are exposed to
Indexed as
AgedAged, 80 and overFemaleGenetic Predisposition to DiseaseHaploinsufficiencyHumansInterferon Regulatory Factor-4Interferon Regulatory FactorsLeukocytesMaleMiddle AgedMutationPedigreePenetranceTropherymaWhipple DiseaseInterferon Regulatory Factor-4Interferon Regulatory Factorshaploinsufficiencyhumanimmunologyinfectious diseaseinflammationIRF4microbiologyprimary immunodeficiencyWhipple's disease
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.