ArticleBlood2017
Novel nonsense gain-of-function
Open access · bronzeAbstract read
In one paragraph
Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 1 pooled it
4.5field-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
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.Journal of clinical immunology · 2024Pooled it
- Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.The Journal of allergy and clinical immunology · 2019Trial
- A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.Journal of clinical immunology · 2026Article
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Case report: novel NFKB2 variant associated with pediatric eosinophilic granulomatosis with polyangiitis (EGPA) in the COVID-19 pandemic.Pediatric rheumatology online journal · 2025Article
- Intrinsic functional defects in B cells of patients with NFKB2 mutations.Clinical and experimental immunology · 2025Article
- Modeling corticotroph deficiency with pituitary organoids supports the functional role ofeLife · 2024Article
- Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia.BMC infectious diseases · 2024Article
- Inherited human RelB deficiency impairs innate and adaptive immunity to infection.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Exploring the prognostic implications of cuproptosis-associated alterations in clear cell renal cell carcinoma via in vitro experiments.Scientific reports · 2024Article
- Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.Nature · 2023Article
- Article
- Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.Frontiers in immunology · 2023Article
- Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.Rheumatology (Oxford, England) · 2022Article
- NF-κB Mutations in Germinal Center B-Cell Lymphomas: Relation to NF-κB Function in Normal B Cells.Biomedicines · 2022Review
- Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.American journal of human genetics · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.The Journal of experimental medicine · 2021Article
- Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant.The Journal of allergy and clinical immunology · 2021Article
- NF-κB: At the Borders of Autoimmunity and Inflammation.Frontiers in immunology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 6 institutions in 3 countries.
Hye Sun KuehnImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
Julie E NiemelaImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
Karthik SreedharaImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
Jennifer L StoddardImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
Jennifer GrossmanDivision of Hematology and Hematologic Malignancies, Alberta Health Services, Calgary, AB, Canada.
Christian A WysockiDivision of Allergy and Immunology, Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.
M Teresa de la MorenaDivision of Allergy and Immunology, Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.
Mary GarofaloLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD.
Jingga InloraDepartment of Genetics and.
Michael P SnyderDepartment of Genetics and.
David B LewisDivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA; and.
Constantine A StratakisSection on Endocrinology and Genetics.
Thomas A FleisherImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
National Institutes of Health Clinical Center · USThe University of Texas Southwestern Medical Center · USAlberta Health Services · CANational Institute of Allergy and Infectious Diseases · USPediatrics and Genetics · USStanford University · US
Funding
Studies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0MMolecular Genetics of Endocrine Tumors and Related DisordersZIAHD008920 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI STRATAKIS, CONSTANTINE A. · 2012 to 2021
$25.8MMutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0kAbstract
NF-κB signaling through its
Indexed as
Codon, NonsenseAdrenal InsufficiencyCommon Variable ImmunodeficiencyEctodermal DysplasiaGrowth HormoneHEK293 CellsHumansMutation, MissenseNF-kappa B p52 SubunitPhenotypeSevere Combined ImmunodeficiencyCodon, NonsenseGrowth HormoneNF-kappa B p52 SubunitNFKB2 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
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.