Literature DB >> 26382860

Genomics is rapidly advancing precision medicine for immunological disorders.

Yu Zhang1, Helen C Su2, Michael J Lenardo3.   

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Year:  2015        PMID: 26382860     DOI: 10.1038/ni.3275

Source DB:  PubMed          Journal:  Nat Immunol        ISSN: 1529-2908            Impact factor:   25.606


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  39 in total

1.  Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.

Authors:  R M Siegel; J K Frederiksen; D A Zacharias; F K Chan; M Johnson; D Lynch; R Y Tsien; M J Lenardo
Journal:  Science       Date:  2000-06-30       Impact factor: 47.728

2.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

Review 3.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

4.  Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

Authors:  Huie Jing; Qian Zhang; Yu Zhang; Brenna J Hill; Christopher G Dove; Erwin W Gelfand; T Prescott Atkinson; Gulbu Uzel; Helen F Matthews; Peter J Mustillo; David B Lewis; Fotini D Kavadas; I Celine Hanson; Ashish R Kumar; Raif S Geha; Daniel C Douek; Steven M Holland; Alexandra F Freeman; Helen C Su
Journal:  J Allergy Clin Immunol       Date:  2014-05-03       Impact factor: 10.793

5.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  Yu Zhang; Xiaomin Yu; Mie Ichikawa; Jonathan J Lyons; Shrimati Datta; Ian T Lamborn; Huie Jing; Emily S Kim; Matthew Biancalana; Lynne A Wolfe; Thomas DiMaggio; Helen F Matthews; Sarah M Kranick; Kelly D Stone; Steven M Holland; Daniel S Reich; Jason D Hughes; Huseyin Mehmet; Joshua McElwee; Alexandra F Freeman; Hudson H Freeze; Helen C Su; Joshua D Milner
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

6.  Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Authors:  Yali Xue; Yuan Chen; Qasim Ayub; Ni Huang; Edward V Ball; Matthew Mort; Andrew D Phillips; Katy Shaw; Peter D Stenson; David N Cooper; Chris Tyler-Smith
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

7.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Authors:  Carrie L Lucas; Hye Sun Kuehn; Fang Zhao; Julie E Niemela; Elissa K Deenick; Umaimainthan Palendira; Danielle T Avery; Leen Moens; Jennifer L Cannons; Matthew Biancalana; Jennifer Stoddard; Weiming Ouyang; David M Frucht; V Koneti Rao; T Prescott Atkinson; Anahita Agharahimi; Ashleigh A Hussey; Les R Folio; Kenneth N Olivier; Thomas A Fleisher; Stefania Pittaluga; Steven M Holland; Jeffrey I Cohen; Joao B Oliveira; Stuart G Tangye; Pamela L Schwartzberg; Michael J Lenardo; Gulbu Uzel
Journal:  Nat Immunol       Date:  2013-10-28       Impact factor: 25.606

8.  Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4.

Authors:  P Waterhouse; J M Penninger; E Timms; A Wakeham; A Shahinian; K P Lee; C B Thompson; H Griesser; T W Mak
Journal:  Science       Date:  1995-11-10       Impact factor: 47.728

9.  Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

Authors:  Jean-Laurent Casanova; Mary Ellen Conley; Stephen J Seligman; Laurent Abel; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2014-10-13       Impact factor: 14.307

10.  Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Authors:  Sarah E Flanagan; Emma Haapaniemi; Mark A Russell; Richard Caswell; Hana Lango Allen; Elisa De Franco; Timothy J McDonald; Hanna Rajala; Anita Ramelius; John Barton; Kaarina Heiskanen; Tarja Heiskanen-Kosma; Merja Kajosaari; Nuala P Murphy; Tatjana Milenkovic; Mikko Seppänen; Åke Lernmark; Satu Mustjoki; Timo Otonkoski; Juha Kere; Noel G Morgan; Sian Ellard; Andrew T Hattersley
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330

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  17 in total

Review 1.  Genomics of Immune Diseases and New Therapies.

Authors:  Michael Lenardo; Bernice Lo; Carrie L Lucas
Journal:  Annu Rev Immunol       Date:  2015-12-23       Impact factor: 28.527

Review 2.  Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Authors:  Bertrand Boisson; Anne Puel; Capucine Picard; Jean-Laurent Casanova
Journal:  J Clin Immunol       Date:  2017-06-09       Impact factor: 8.317

Review 3.  Human genetic basis of interindividual variability in the course of infection.

Authors:  Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2015-11-30       Impact factor: 11.205

Review 4.  Recent Advances in DOCK8 Immunodeficiency Syndrome.

Authors:  Qian Zhang; Huie Jing; Helen C Su
Journal:  J Clin Immunol       Date:  2016-05-20       Impact factor: 8.317

Review 5.  Human genetics of infectious diseases: Unique insights into immunological redundancy.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Semin Immunol       Date:  2017-12-16       Impact factor: 11.130

Review 6.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

7.  Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Authors:  Laura Israel; Ying Wang; Katarzyna Bulek; Erika Della Mina; Zhao Zhang; Vincent Pedergnana; Maya Chrabieh; Nicole A Lemmens; Vanessa Sancho-Shimizu; Marc Descatoire; Théo Lasseau; Elisabeth Israelsson; Lazaro Lorenzo; Ling Yun; Aziz Belkadi; Andrew Moran; Leonard E Weisman; François Vandenesch; Frederic Batteux; Sandra Weller; Michael Levin; Jethro Herberg; Avinash Abhyankar; Carolina Prando; Yuval Itan; Willem J B van Wamel; Capucine Picard; Laurent Abel; Damien Chaussabel; Xiaoxia Li; Bruce Beutler; Peter D Arkwright; Jean-Laurent Casanova; Anne Puel
Journal:  Cell       Date:  2017-02-23       Impact factor: 66.850

8.  A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Authors:  Vivien Béziat; Juan Li; Jian-Xin Lin; Cindy S Ma; Peng Li; Aziz Bousfiha; Isabelle Pellier; Samaneh Zoghi; Safa Baris; Sevgi Keles; Paul Gray; Ning Du; Yi Wang; Yoann Zerbib; Romain Lévy; Thibaut Leclercq; Frédégonde About; Ai Ing Lim; Geetha Rao; Kathryn Payne; Simon J Pelham; Danielle T Avery; Elissa K Deenick; Bethany Pillay; Janet Chou; Romain Guery; Aziz Belkadi; Antoine Guérin; Mélanie Migaud; Vimel Rattina; Fatima Ailal; Ibtihal Benhsaien; Matthieu Bouaziz; Tanwir Habib; Damien Chaussabel; Nico Marr; Jamel El-Benna; Bodo Grimbacher; Orli Wargon; Jacinta Bustamante; Bertrand Boisson; Ingrid Müller-Fleckenstein; Bernhard Fleckenstein; Marie-Olivia Chandesris; Matthias Titeux; Sylvie Fraitag; Marie-Alexandra Alyanakian; Marianne Leruez-Ville; Capucine Picard; Isabelle Meyts; James P Di Santo; Alain Hovnanian; Ayper Somer; Ahmet Ozen; Nima Rezaei; Talal A Chatila; Laurent Abel; Warren J Leonard; Stuart G Tangye; Anne Puel; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-06-15

Review 9.  Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  Annu Rev Pathol       Date:  2020-04-14       Impact factor: 23.472

Review 10.  Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies.

Authors:  Qian Zhang; Pierre Frange; Stéphane Blanche; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2017-10-06       Impact factor: 7.486

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