In one paragraphArticle in Journal of human immunity, 2027. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.
2 · The registryThe 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.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
16 authors.
Sophia Marie ArmbrusterFaculty of Medicine, Clinic of Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.ORCID 0009-0007-7544-5783 Andres Caballero-OteyzaFaculty of Medicine, Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.ORCID 0000-0002-8892-1255 Oliver BartschDepartment of Human Genetics, Medical Care Center, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.ORCID 0000-0001-6329-696X Tiziana LorenziniDivision of Immunology and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.ORCID 0009-0008-9457-2419 Hassan AbolhassaniDivision of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0002-4838-0407 Samantha ChanDepartment of Clinical Immunology & Allergy, Royal Melbourne Hospital, Melbourne, Australia.ORCID 0000-0002-3785-7759 Luis Ignacio González GranadoPrimary Immunodeficiencies Unit, Department of Pediatrics, Hospital 12 Octubre, Research Institute University Hospital 12 de Octubre Complutense School of Medicine, Madrid, Spain.ORCID 0000-0001-6917-8980 Victor Garcia-BustosPrimary Immunodeficiencies Unit, Department of Internal Medicine, University and Polytechnic Hospital La Fe, Valencia, Spain.ORCID 0000-0002-1785-258X Marta Dafne Cabañero NavalonPrimary Immunodeficiencies Unit, Department of Internal Medicine, University and Polytechnic Hospital La Fe, Valencia, Spain.ORCID 0000-0002-1447-9214 Nazanin FathiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran.ORCID 0000-0002-9562-9623 Nima RezaeiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran.ORCID 0000-0002-3836-1827 Mathieu FusaroImmunology Department Laboratory, Referral Medical Biology Laboratory, Toulouse University Hospital Center, Toulouse, France.ORCID 0000-0002-5332-3626 Roger ColobranTranslational Immunology Research Group, Immunology Division, Department of Cell Biology, Physiology and Immunology, Vall D'Hebron Research Institute, Vall D'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain.ORCID 0000-0002-5964-536X Kaan BoztugClinic for Pediatric Immunology and Rheumatology, University of Bonn, University Hospital Bonn , Bonn, Germany.ORCID 0000-0001-8387-9185 Michele ProiettiFaculty of Medicine, Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.ORCID 0000-0003-3095-0886 Bodo GrimbacherFaculty of Medicine, Clinic of Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.ORCID 0000-0002-6897-6806 Funding
Bundesministerium für Forschung, Technologie und Raumfahrt GAIN 01GM2206ADeutsche Forschungsgemeinschaft 390874280Deutsche Forschungsgemeinschaft 390939984Deutsche Forschungsgemeinschaft SFB1160/3_B5European UnionInstituto de Salud Carlos III FIS-PI21/01642University of Freiburg
6 · The paper itselfAbstract
Heterozygous germline variants in NFKB1 can be classified into variants with "known protein defect" and "unknown protein effect." However, beyond this, NFKB1 variants may be additionally categorized into at least eight distinct variant classes. We conducted a literature review of 67 papers reporting on NFKB1 variants and included four additional individuals, carrying previously unreported NFKB1 variants. We identified 333 individuals with unique variants in NFKB1. Our compiled data revealed that there is no sex predilection, the penetrance-including all heterozygous carriers-was 78%, and the mean age of onset for the "known protein defect cohort" was 21.2 years. Individuals harboring variants with a known protein defect demonstrated a higher frequency of malignancies and autoimmune disorders. However, these individuals were less frequently classified as affected than individuals with variants with unknown protein defect. Carriers of whole NFKB1 gene deletions had a significantly higher penetrance to being designated as "affected," but beyond this, the clinical manifestations did not differ between variant classes.
Identifiers
PMID42895832
PMCPMC13679715
What OpenQuestion holds
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