Literature DB >> 22981790

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.

Siobhan O Burns, Helen L Zenner, Vincent Plagnol, James Curtis, Kin Mok, Michael Eisenhut, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev.   

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Year:  2012        PMID： 22981790      PMCID： PMC3930010          DOI： 10.1016/j.jaci.2012.07.035

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  5 in total

1.  Repeated courses of rituximab for autoimmune cytopenias may precipitate profound hypogammaglobulinaemia requiring replacement intravenous immunoglobulin.

Authors:  Nichola Cooper; E Graham Davies; Adrian J Thrasher
Journal:  Br J Haematol       Date:  2009-05-09       Impact factor: 6.998

2.  Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins.

Authors:  J W Wang; J Howson; E Haller; W G Kerr
Journal:  J Immunol       Date:  2001-04-01       Impact factor: 5.422

3.  Primary immunodeficiencies: 2009 update.

Authors:  Luigi D Notarangelo; Alain Fischer; Raif S Geha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Lennart Hammartröm; Shigeaki Nonoyama; Hans D Ochs; Jennifer Puck; Chaim Roifman; Reinhard Seger; Josiah Wedgwood
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

4.  Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.

Authors:  Gabriela Lopez-Herrera; Giacomo Tampella; Qiang Pan-Hammarström; Peer Herholz; Claudia M Trujillo-Vargas; Kanchan Phadwal; Anna Katharina Simon; Michel Moutschen; Amos Etzioni; Adi Mory; Izhak Srugo; Doron Melamed; Kjell Hultenby; Chonghai Liu; Manuela Baronio; Massimiliano Vitali; Pierre Philippet; Vinciane Dideberg; Asghar Aghamohammadi; Nima Rezaei; Victoria Enright; Likun Du; Ulrich Salzer; Hermann Eibel; Dietmar Pfeifer; Hendrik Veelken; Hans Stauss; Vassilios Lougaris; Alessandro Plebani; E Michael Gertz; Alejandro A Schäffer; Lennart Hammarström; Bodo Grimbacher
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

5.  A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.

Authors:  Vincent Plagnol; James Curtis; Michael Epstein; Kin Y Mok; Emma Stebbings; Sofia Grigoriadou; Nicholas W Wood; Sophie Hambleton; Siobhan O Burns; Adrian J Thrasher; Dinakantha Kumararatne; Rainer Doffinger; Sergey Nejentsev
Journal:  Bioinformatics       Date:  2012-08-31       Impact factor: 6.937
  5 in total
  37 in total

1.  International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.

Authors:  Francisco A Bonilla; Isil Barlan; Helen Chapel; Beatriz T Costa-Carvalho; Charlotte Cunningham-Rundles; M Teresa de la Morena; Francisco J Espinosa-Rosales; Lennart Hammarström; Shigeaki Nonoyama; Isabella Quinti; John M Routes; Mimi L K Tang; Klaus Warnatz
Journal:  J Allergy Clin Immunol Pract       Date:  2015-11-07

Review 2.  Spectrum of Phenotypes Associated with Mutations in LRBA.

Authors:  Omar K Alkhairy; Hassan Abolhassani; Nima Rezaei; Mingyan Fang; Kasper Krogh Andersen; Zahra Chavoshzadeh; Iraj Mohammadzadeh; Mariam A El-Rajab; Michel Massaad; Janet Chou; Asghar Aghamohammadi; Raif S Geha; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2015-12-28       Impact factor: 8.317

Review 3.  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

4.  A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease.

Authors:  Sinan Sari; Figen Dogu; Vivian Hwa; Sule Haskologlu; Andrew Dauber; Ron Rosenfeld; Meltem Polat; Zarife Kuloglu; Aydan Kansu; Buket Dalgic; Aydan Ikinciogullari
Journal:  J Clin Immunol       Date:  2015-12-19       Impact factor: 8.317

Review 5.  Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies.

Authors:  Roshini S Abraham; Geraldine Aubert
Journal:  Clin Vaccine Immunol       Date:  2016-04-04

6.  Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.

Authors:  Svetlana O Sharapova; Emma Haapaniemi; Inga S Sakovich; Jessica Rojas; Laura Gámez-Díaz; Yuliya E Mareika; Irina E Guryanova; Alexandr A Migas; Taisiya M Mikhaleuskaya; Bodo Grimbacher; Olga V Aleinikova
Journal:  J Clin Immunol       Date:  2018-05-26       Impact factor: 8.317

7.  Neurological Involvement in Childhood Evans Syndrome.

Authors:  Thomas Pincez; Bénédicte Neven; Hubert Ducou Le Pointe; Pascale Varlet; Helder Fernandes; Albane Gareton; Guy Leverger; Thierry Leblanc; Hervé Chambost; Gérard Michel; Marlène Pasquet; Frédéric Millot; Olivier Hermine; Alexis Mathian; Marie Hully; Hélène Zephir; Mohamed Hamidou; Jean-Marc Durand; Yves Perel; Judith Landman-Parker; Fréderic Rieux-Laucat; Nathalie Aladjidi
Journal:  J Clin Immunol       Date:  2019-01-22       Impact factor: 8.317

Review 8.  CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Authors:  Bernice Lo; Jill M Fritz; Helen C Su; Gulbu Uzel; Michael B Jordan; Michael J Lenardo
Journal:  Blood       Date:  2016-07-14       Impact factor: 22.113

9.  Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Authors:  Charlotte Schwab; Annemarie Gabrysch; Peter Olbrich; Virginia Patiño; Klaus Warnatz; Daniel Wolff; Akihiro Hoshino; Masao Kobayashi; Kohsuke Imai; Masatoshi Takagi; Ingunn Dybedal; Jamanda A Haddock; David M Sansom; Jose M Lucena; Maximilian Seidl; Annette Schmitt-Graeff; Veronika Reiser; Florian Emmerich; Natalie Frede; Alla Bulashevska; Ulrich Salzer; Desirée Schubert; Seiichi Hayakawa; Satoshi Okada; Maria Kanariou; Zeynep Yesim Kucuk; Hugo Chapdelaine; Lenka Petruzelkova; Zdenek Sumnik; Anna Sediva; Mary Slatter; Peter D Arkwright; Andrew Cant; Hanns-Martin Lorenz; Thomas Giese; Vassilios Lougaris; Alessandro Plebani; Christina Price; Kathleen E Sullivan; Michel Moutschen; Jiri Litzman; Tomas Freiberger; Frank L van de Veerdonk; Mike Recher; Michael H Albert; Fabian Hauck; Suranjith Seneviratne; Jana Pachlopnik Schmid; Antonios Kolios; Gary Unglik; Christian Klemann; Carsten Speckmann; Stephan Ehl; Alan Leichtner; Richard Blumberg; Andre Franke; Scott Snapper; Sebastian Zeissig; Charlotte Cunningham-Rundles; Lisa Giulino-Roth; Olivier Elemento; Gregor Dückers; Tim Niehues; Eva Fronkova; Veronika Kanderová; Craig D Platt; Janet Chou; Talal A Chatila; Raif Geha; Elizabeth McDermott; Su Bunn; Monika Kurzai; Ansgar Schulz; Laia Alsina; Ferran Casals; Angela Deyà-Martinez; Sophie Hambleton; Hirokazu Kanegane; Kjetil Taskén; Olaf Neth; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2018-05-04       Impact factor: 10.793

Review 10.  The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Authors:  Andrew R Cullinane; Alejandro A Schäffer; Marjan Huizing
Journal:  Traffic       Date:  2013-04-24       Impact factor: 6.215
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