ArticleThe Journal of allergy and clinical immunology2015
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
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In one paragraph
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed
2.7field-weighted citation impact, top 10% of its field
What it found
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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.
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Who cites it
58 citing papers in PubMed, 109 citations in OpenAlex.
- Autosomal dominant gain-of-function mutations in LCP1 cause a syndromic neutropenia and immunodeficiency.Genes & diseases · 2027Article
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- How Functional Variants Reconfigure the Rac2 Conformational Landscape.The journal of physical chemistry. B · 2026Article
- Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing.International journal of neonatal screening · 2026Article
- How Functional Variants Reconfigure the Rac2 Conformational Landscape.bioRxiv : the preprint server for biology · 2026Article
- RAC2 orchestrates immune cell actin remodeling and migration.Frontiers in immunology · 2026Review
- The Role of RAC2 and PTTG1 in Cancer Biology.Cells · 2025Review
- Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.Frontiers in genetics · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.The Journal of experimental medicine · 2024Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Article
- The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review.Journal of clinical medicine · 2024Review
- HIV-1 Mediated Cortical Actin Disruption Mirrors ARP2/3 Defects Found in Primary T Cell Immunodeficiencies.bioRxiv : the preprint server for biology · 2024Article
- Case Report: Profound newborn leukopenia related to a novel RAC2 variant.Frontiers in pediatrics · 2024Article
- Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans.Frontiers in immunology · 2024Review
- Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.Clinical and experimental immunology · 2023Review
- Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity.Biology · 2023Article
- Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.Journal of clinical immunology · 2023Article
- Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.Clinical and experimental immunology · 2023Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Omar K AlkhairyDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Nima RezaeiResearch Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Robert R GrahamImmunology Biomarkers Group, Genentech, South San Francisco, Calif.
Hassan AbolhassaniDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Research Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Stephan BorteDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany.
Kjell HultenbyDivision of Clinical Research Centre, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Chenglin WuDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Asghar AghamohammadiResearch Center for Immunodeficiencies, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
David A WilliamsDivision of Hematology/Oncology, Children's Hospital Boston, and Dana-Farber Cancer Institute, Harvard Medical School, Boston, Mass.
Timothy W BehrensImmunology Biomarkers Group, Genentech, South San Francisco, Calif.
Lennart HammarströmDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Qiang Pan-HammarströmDivision of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address: Qiang.Pan-Hammarstrom@ki.se.
GenentechKarolinska University Hospital · SEChildren's Medical Center · IRHarvard University · USKarolinska Institutet · SE
Funding
Rac proteins in hematopoietic cell survival and functionR01DK062757 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI WILLIAMS, DAVID A · 2002 to 2016
$5.7MEuropean Research Council 242551NIDDK NIH HHS 5R01DK062757-12NIDDK NIH HHS R01 DK062757
Abstract
PubMed holds no abstract for this paper.
Indexed as
MutationChildCommon Variable ImmunodeficiencyDNA Mutational AnalysisFemaleGenotypeHumansInfantMaleNeutrophilsPedigreeRAC2 GTP-Binding Proteinrac GTP-Binding ProteinsSiblingsRAC2 GTP-Binding Proteinrac GTP-Binding Proteins
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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.