Literature DB >> 25258064

Immunology. Autoimmunity by haploinsufficiency.

Frédéric Rieux-Laucat1, Jean-Laurent Casanova2.   

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Year:  2014        PMID: 25258064     DOI: 10.1126/science.1260791

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


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  37 in total

1.  Genomics is rapidly advancing precision medicine for immunological disorders.

Authors:  Yu Zhang; Helen C Su; Michael J Lenardo
Journal:  Nat Immunol       Date:  2015-10       Impact factor: 25.606

Review 2.  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

3.  Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Authors:  Manfred Fliegauf; Vanessa L Bryant; Natalie Frede; Charlotte Slade; See-Tarn Woon; Klaus Lehnert; Sandra Winzer; Alla Bulashevska; Thomas Scerri; Euphemia Leung; Anthony Jordan; Baerbel Keller; Esther de Vries; Hongzhi Cao; Fang Yang; Alejandro A Schäffer; Klaus Warnatz; Peter Browett; Jo Douglass; Rohan V Ameratunga; Jos W M van der Meer; Bodo Grimbacher
Journal:  Am J Hum Genet       Date:  2015-08-13       Impact factor: 11.025

Review 4.  Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors:  Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2015-01-31       Impact factor: 7.486

Review 5.  Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.

Authors:  Hella Luksch; Stefan Winkler; Michael C Heymann; Felix Schulze; Sigrun R Hofmann; Joachim Roesler; Angela Rösen-Wolff
Journal:  Curr Rheumatol Rep       Date:  2015-07       Impact factor: 4.592

6.  Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Authors:  H S Kuehn; B Boisson; M E Conley; S D Rosenzweig; C Cunningham-Rundles; J Reichenbach; A Stray-Pedersen; E W Gelfand; P Maffucci; K R Pierce; J K Abbott; K V Voelkerding; S T South; N H Augustine; J S Bush; W K Dolen; B B Wray; Y Itan; A Cobat; H S Sorte; S Ganesan; S Prader; T B Martins; M G Lawrence; J S Orange; K R Calvo; J E Niemela; J-L Casanova; T A Fleisher; H R Hill; A Kumánovics
Journal:  N Engl J Med       Date:  2016-03-17       Impact factor: 91.245

Review 7.  The Immune Response and the Pathogenesis of Idiopathic Inflammatory Myositis: a Critical Review.

Authors:  Angela Ceribelli; Maria De Santis; Natasa Isailovic; M Eric Gershwin; Carlo Selmi
Journal:  Clin Rev Allergy Immunol       Date:  2017-02       Impact factor: 8.667

Review 8.  Severe infectious diseases of childhood as monogenic inborn errors of immunity.

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

9.  Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Authors:  Alexandre Bolze; Bertrand Boisson; Barbara Bosch; Alexander Antipenko; Matthieu Bouaziz; Paul Sackstein; Malik Chaker-Margot; Vincent Barlogis; Tracy Briggs; Elena Colino; Aurora C Elmore; Alain Fischer; Ferah Genel; Angela Hewlett; Maher Jedidi; Jadranka Kelecic; Renate Krüger; Cheng-Lung Ku; Dinakantha Kumararatne; Alain Lefevre-Utile; Sam Loughlin; Nizar Mahlaoui; Susanne Markus; Juan-Miguel Garcia; Mathilde Nizon; Matias Oleastro; Malgorzata Pac; Capucine Picard; Andrew J Pollard; Carlos Rodriguez-Gallego; Caroline Thomas; Horst Von Bernuth; Austen Worth; Isabelle Meyts; Maurizio Risolino; Licia Selleri; Anne Puel; Sebastian Klinge; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-02       Impact factor: 11.205

10.  Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.

Authors:  Cyrill Schipp; Schafiq Nabhani; Kirsten Bienemann; Natalia Simanovsky; Shlomit Kfir-Erenfeld; Nathalie Assayag-Asherie; Prasad T Oommen; Shoshana Revel-Vilk; Andrea Hönscheid; Michael Gombert; Sebastian Ginzel; Daniel Schäfer; Hans-Jürgen Laws; Eitan Yefenof; Bernhard Fleckenstein; Arndt Borkhardt; Polina Stepensky; Ute Fischer
Journal:  Haematologica       Date:  2016-06-30       Impact factor: 9.941

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