ArticleProceedings of the National Academy of Sciences of the United States of America2018
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
4.2field-weighted citation impact, top 6% of its field
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- A systems perspective on monoallelic inborn errors of immunity.Nature genetics · 2026Review
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.Journal of human immunity · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Genome-wide detection of human 5' UTR variants that impact protein translation.American journal of human genetics · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Inborn errors of immunity: an expanding universe of disease and genetic architecture.Nature reviews. Genetics · 2024Review
- 3' UTR Deletion ofGenes · 2023Article
- Asplenia and spleen hypofunction.Nature reviews. Disease primers · 2022Review
- Isolated congenital asplenia: An overlooked cause of thrombocytosis.American journal of hematology · 2022Article
- Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.The Journal of experimental medicine · 2021Article
- Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.Annual review of pathology · 2021Review
- The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.Human genetics · 2020Review
- Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.Human genetics · 2020Review
- Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis.European journal of case reports in internal medicine · 2020Article
- Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.Human mutation · 2020Article
- Article
- Pneumococcal infection transmission between family members with congenital asplenia: A case report.World journal of clinical cases · 2019Article
- RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.American journal of human genetics · 2019Article
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
Corrections and comments
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Authors and funding
40 authors at 20 institutions in 12 countries.
Alexandre BolzeSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; bebo283@rockefeller.edu casanova@rockefeller.edu.
Barbara BoschSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Alexander AntipenkoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.
Paul SacksteinSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Malik Chaker-MargotLaboratory of Protein and Nucleic Acid Chemistry, The Rockefeller University, New York, NY 10065.
Vincent BarlogisPediatric Hematology, University Hospital of Marseille, 13005 Marseille, France.
Tracy BriggsManchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom.
Elena ColinoDepartment of Pediatrics, Insular Maternity and Child University Hospital Center, 35016 Las Palmas de Gran Canaria, Spain.
Aurora C ElmoreNational Geographic Society, Washington, DC 20036.
Alain FischerImagine Institute, Paris Descartes University, 75015 Paris, France.
Ferah GenelPediatric Immunology, Dr. Behcet Uz Children's Hospital, 35210 Izmir, Turkey.
Angela HewlettDivision of Infectious Diseases, University of Nebraska Medical Center, Omaha, NE 68198.
Maher JedidiDepartment of Legal Medicine, University Hospital Center Farhat Hached, Sousse, Tunisia.
Jadranka KelecicDepartment of Pediatrics, University Hospital Center Zagreb, 10 000 Zagreb, Croatia.
Renate KrügerDepartment of Pediatric Pneumology, Immunology and Intensive Care, Charité - Berlin University Hospital Center, 10117 Berlin, Germany.
Cheng-Lung KuGraduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan City 33302, Taiwan.
Dinakantha KumararatneDepartment of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge University Foundation Hospitals NHS Trust, Cambridge CB2 0QQ, United Kingdom.
Alain Lefevre-UtileDepartment of Pediatrics, Infectious Diseases and Internal Medicine, Robert Debré Hospital, AP-HP, 75019 Paris, France.
Sam LoughlinMolecular Genetics, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Nizar MahlaouiImagine Institute, Paris Descartes University, 75015 Paris, France.
Susanne MarkusMedical Genetics Dr. Staber & Kollegen Laboratory, 93051 Regensburg, Germany.
Juan-Miguel GarciaPediatric Immunology, Cruces University Hospital, 48903 Barakaldo-Vizcaya, Spain.
Mathilde NizonMedical Genetics Department, University Hospital of Nantes, 44000 Nantes, France.
Matias OleastroDepartment of Immunology and Rheumatology, Hospital de Pediatría J. P. Garrahan, 1249 Buenos Aires, Argentina.
Malgorzata PacDepartment of Immunology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Capucine PicardImagine Institute, Paris Descartes University, 75015 Paris, France.ORCID 0000-0001-8788-5056
Andrew J PollardOxford Vaccine Group, Department of Paediatrics, Oxford Children's Hospital, University of Oxford, Oxford OX4 2PG, United Kingdom.
Carlos Rodriguez-GallegoDepartment of Immunology, University Hospital of Gran Canaria Doctor Negrin, 35010 Las Palmas de Gran Canaria, Spain.
Caroline ThomasPediatric Oncology and Hematology, University Hospital of Nantes, 44000 Nantes, France.
Horst Von BernuthDepartment of Pediatric Pneumology, Immunology and Intensive Care, Charité - Berlin University Hospital Center, 10117 Berlin, Germany.
Austen WorthPediatric Immunology, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
Isabelle MeytsDepartment of Microbiology and Immunology, KU Leuven, BE-3000 Leuven, Belgium.
Maurizio RisolinoInstitute for Human Genetics, University of California, San Francisco, CA 94143.
Licia SelleriInstitute for Human Genetics, University of California, San Francisco, CA 94143.
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Sebastian KlingeLaboratory of Protein and Nucleic Acid Chemistry, The Rockefeller University, New York, NY 10065.
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; bebo283@rockefeller.edu casanova@rockefeller.edu.
Inserm · FRRockefeller University · USGreat Ormond Street Hospital · GBUniversity of California, San Francisco · USAssistance Publique Hôpitaux de Marseille · FRAssistance Publique – Hôpitaux de Paris · FRBerlin-Brandenburger Centrum für Regenerative Therapien · DECambridge University Hospitals NHS Foundation Trust · GBCentre Hospitalier Universitaire de Nantes · FRChang Gung University · TWCharité - Universitätsmedizin Berlin · DEChildren's Memorial Health Institute · PLDr. Behçet Uz Çocuk Hastalıkları Hastanesi · TRGarrahan Hospital · ARHelix (United States) · USHôpital Farhat Hached · TNHospital de Cruces · ESHospital Universitario de Gran Canaria Doctor Negrín · ESHospital Universitario Insular de Gran Canaria · ESHoward Hughes Medical Institute · US
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR001866
Abstract
Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of
Indexed as
ExonsMutationPenetrance5' Untranslated RegionsFemaleFounder EffectHeterozygoteHumansImmunologic Deficiency SyndromesMalePrimary Immunodeficiency DiseasesProtein BiosynthesisReceptors, LamininRibosomal ProteinsRNA SplicingSpleen5' Untranslated RegionsReceptors, LamininRibosomal ProteinsRPSA protein, humanincomplete penetranceisolated congenital aspleniaribosomopathyRPSAspleen
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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.