Literature DB >> 29804237

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

Svetlana O Sharapova1, Emma Haapaniemi2,3, Inga S Sakovich4, Jessica Rojas5, Laura Gámez-Díaz5, Yuliya E Mareika4, Irina E Guryanova4, Alexandr A Migas4, Taisiya M Mikhaleuskaya4, Bodo Grimbacher5, Olga V Aleinikova4.   

Abstract

Entities:  

Keywords:  LRBA homozygous mutation; Slavic family; germline mosaicism; multiple autoimmunity

Mesh：

Substances：

Year:  2018        PMID： 29804237     DOI： 10.1007/s10875-018-0515-x

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  28 in total

1.  LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

Authors:  Abdullah Alangari; Abdulrahman Alsultan; Nouran Adly; Michel J Massaad; Iram Shakir Kiani; Abdulrahman Aljebreen; Emad Raddaoui; Abdul-Kareem Almomen; Saleh Al-Muhsen; Raif S Geha; Fowzan S Alkuraya
Journal:  J Allergy Clin Immunol       Date:  2012-06-19       Impact factor: 10.793

2.  LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Authors:  Eva Lévy; Marie-Claude Stolzenberg; Julie Bruneau; Sylvain Breton; Bénédicte Neven; Sylvie Sauvion; Mohammed Zarhrate; Patrick Nitschké; Alain Fischer; Aude Magérus-Chatinet; Pierre Quartier; Frédéric Rieux-Laucat
Journal:  Clin Immunol       Date:  2016-04-05       Impact factor: 3.969

3.  Gonadal mosaicism as a rare cause of autosomal recessive inheritance.

Authors:  S Anazi; E Al-Sabban; F S Alkuraya
Journal:  Clin Genet       Date:  2013-04-22       Impact factor: 4.438

4.  Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.

Authors:  Fayhan J Alroqi; Louis-Marie Charbonnier; Safa Baris; Ayca Kiykim; Janet Chou; Craig D Platt; Abdulrahman Algassim; Sevgi Keles; Bandar K Al Saud; Fowzan S Alkuraya; Michael Jordan; Raif S Geha; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2017-06-07       Impact factor: 10.793

5.  AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Authors:  Bernice Lo; Kejian Zhang; Wei Lu; Lixin Zheng; Qian Zhang; Chrysi Kanellopoulou; Yu Zhang; Zhiduo Liu; Jill M Fritz; Rebecca Marsh; Ammar Husami; Diane Kissell; Shannon Nortman; Vijaya Chaturvedi; Hilary Haines; Lisa R Young; Jun Mo; Alexandra H Filipovich; Jack J Bleesing; Peter Mustillo; Michael Stephens; Cesar M Rueda; Claire A Chougnet; Kasper Hoebe; Joshua McElwee; Jason D Hughes; Elif Karakoc-Aydiner; Helen F Matthews; Susan Price; Helen C Su; V Koneti Rao; Michael J Lenardo; Michael B Jordan
Journal:  Science       Date:  2015-07-24       Impact factor: 47.728

6.  Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

Authors:  Felix Schreiner; Michaela Plamper; Gesche Dueker; Stefan Schoenberger; Laura Gámez-Díaz; Bodo Grimbacher; Alina C Hilger; Bettina Gohlke; Heiko Reutter; Joachim Woelfle
Journal:  J Clin Endocrinol Metab       Date:  2016-01-08       Impact factor: 5.958

7.  Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Authors:  Caroline Besnard; Eva Levy; Nathalie Aladjidi; Marie-Claude Stolzenberg; Aude Magerus-Chatinet; Olivier Alibeu; Patrick Nitschke; Stéphane Blanche; Olivier Hermine; Eric Jeziorski; Judith Landman-Parker; Guy Leverger; Nizar Mahlaoui; Gérard Michel; Isabelle Pellier; Felipe Suarez; Isabelle Thuret; Geneviève de Saint-Basile; Capucine Picard; Alain Fischer; Bénédicte Neven; Frédéric Rieux-Laucat; Pierre Quartier
Journal:  Clin Immunol       Date:  2018-01-10       Impact factor: 3.969

8.  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

9.  The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Authors:  Laura Gámez-Díaz; Dietrich August; Polina Stepensky; Shoshana Revel-Vilk; Markus G Seidel; Mitsuiki Noriko; Tomohiro Morio; Austen J J Worth; Jacob Blessing; Frank Van de Veerdonk; Tobias Feuchtinger; Maria Kanariou; Annette Schmitt-Graeff; Sophie Jung; Suranjith Seneviratne; Siobhan Burns; Bernd H Belohradsky; Nima Rezaei; Shahrzad Bakhtiar; Carsten Speckmann; Michael Jordan; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2016-01       Impact factor: 10.793

10.  Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Authors:  Markus G Seidel; Tatjana Hirschmugl; Laura Gamez-Diaz; Wolfgang Schwinger; Nina Serwas; Andrea Deutschmann; Gregor Gorkiewicz; Werner Zenz; Christian Windpassinger; Bodo Grimbacher; Christian Urban; Kaan Boztug
Journal:  J Allergy Clin Immunol       Date:  2014-12-22       Impact factor: 10.793
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