Literature DB >> 26686526

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

Sinan Sari1, Figen Dogu2, Vivian Hwa3, Sule Haskologlu2, Andrew Dauber3, Ron Rosenfeld4, Meltem Polat5, Zarife Kuloglu6, Aydan Kansu6, Buket Dalgic7, Aydan Ikinciogullari2.   

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Year:  2015        PMID： 26686526      PMCID： PMC7254980          DOI： 10.1007/s10875-015-0220-y

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


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  10 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

Review 2.  Diagnosis and treatment of primary immunodeficiency disease in patients with gastrointestinal symptoms.

Authors:  L J Kobrynski; L Mayer
Journal:  Clin Immunol       Date:  2011-01-26       Impact factor: 3.969

3.  The Oslo definitions for coeliac disease and related terms.

Authors:  Jonas F Ludvigsson; Daniel A Leffler; Julio C Bai; Federico Biagi; Alessio Fasano; Peter H R Green; Marios Hadjivassiliou; Katri Kaukinen; Ciaran P Kelly; Jonathan N Leonard; Knut Erik Aslaksen Lundin; Joseph A Murray; David S Sanders; Marjorie M Walker; Fabiana Zingone; Carolina Ciacci
Journal:  Gut       Date:  2012-02-16       Impact factor: 23.059

4.  Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Authors:  Louis-Marie Charbonnier; Erin Janssen; Janet Chou; Toshiro K Ohsumi; Sevgi Keles; Joyce T Hsu; Michel J Massaad; Maria Garcia-Lloret; Rima Hanna-Wakim; Ghassan Dbaibo; Abdullah A Alangari; Abdulrahman Alsultan; Daifulah Al-Zahrani; Raif S Geha; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2014-11-17       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.  LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.

Authors:  Siobhan O Burns; Helen L Zenner; Vincent Plagnol; James Curtis; Kin Mok; Michael Eisenhut; Dinakantha Kumararatne; Rainer Doffinger; Adrian J Thrasher; Sergey Nejentsev
Journal:  J Allergy Clin Immunol       Date:  2012-09-14       Impact factor: 10.793

7.  Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.

Authors:  Tayfun Güngör; Pierre Teira; Mary Slatter; Georg Stussi; Polina Stepensky; Despina Moshous; Clementien Vermont; Imran Ahmad; Peter J Shaw; José Marcos Telles da Cunha; Paul G Schlegel; Rachel Hough; Anders Fasth; Karim Kentouche; Bernd Gruhn; Juliana F Fernandes; Silvy Lachance; Robbert Bredius; Igor B Resnick; Bernd H Belohradsky; Andrew Gennery; Alain Fischer; H Bobby Gaspar; Urs Schanz; Reinhard Seger; Katharina Rentsch; Paul Veys; Elie Haddad; Michael H Albert; Moustapha Hassan
Journal:  Lancet       Date:  2013-10-23       Impact factor: 79.321

8.  Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Authors:  Nina Kathrin Serwas; Aydan Kansu; Elisangela Santos-Valente; Zarife Kuloğlu; Arzu Demir; Aytaç Yaman; Laura Yaneth Gamez Diaz; Reha Artan; Ersin Sayar; Arzu Ensari; Bodo Grimbacher; Kaan Boztug
Journal:  Inflamm Bowel Dis       Date:  2015-01       Impact factor: 5.325

9.  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

10.  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
  10 in total
  18 in total

1.  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

Review 2.  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

3.  Immunological phenotype of the murine Lrba knockout.

Authors:  Laura Gámez-Díaz; Julika Neumann; Fiona Jäger; Michele Proietti; Felicitas Felber; Pauline Soulas-Sprauel; Lisa Perruzza; Fabio Grassi; Tamara Kögl; Peter Aichele; Manfred Kilimann; Bodo Grimbacher; Sophie Jung
Journal:  Immunol Cell Biol       Date:  2017-07-25       Impact factor: 5.126

4.  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

5.  Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Authors:  Oded Shamriz; Bella Shadur; Adeeb NaserEddin; Irina Zaidman; Natalia Simanovsky; Orly Elpeleg; Eitan Kerem; Joel Reiter; Polina Stepensky
Journal:  Eur J Pediatr       Date:  2018-05-18       Impact factor: 3.183

6.  LRBA is Essential for Allogeneic Responses in Bone Marrow Transplantation.

Authors:  Mi Young Park; Raki Sudan; Neetu Srivastava; Sudha Neelam; Christie Youngs; Jia-Wang Wang; Robert W Engelman; William G Kerr
Journal:  Sci Rep       Date:  2016-11-08       Impact factor: 4.379

7.  Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.

Authors:  Shahrzad Bakhtiar; Laura Gámez-Díaz; Andrea Jarisch; Jan Soerensen; Bodo Grimbacher; Bernd Belohradsky; Klaus-Michael Keller; Christoph Rietschel; Thomas Klingebiel; Sibylle Koletzko; Michael H Albert; Peter Bader
Journal:  Front Immunol       Date:  2017-01-31       Impact factor: 7.561

8.  Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.

Authors:  Deborah L Burnett; Ian A Parish; Etienne Masle-Farquhar; Robert Brink; Christopher C Goodnow
Journal:  Immunol Cell Biol       Date:  2017-06-14       Impact factor: 5.126

9.  Markers of inflammation and cardiovascular disease in recently diagnosed celiac disease patients.

Authors:  Walter F Tetzlaff; Tomás Meroño; Martin Menafra; Maximiliano Martin; Eliana Botta; Maria D Matoso; Patricia Sorroche; Juan A De Paula; Laura E Boero; Fernando Brites
Journal:  World J Cardiol       Date:  2017-05-26

10.  Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation.

Authors:  Nashat Al Sukaiti; Khwater AbdelRahman; Jalila AlShekaili; Sumaya Al Oraimi; Aisha Al Sinani; Nasser Al Rahbi; Vicky Cho; Matt Field; Matthew C Cook
Journal:  Clin Transl Immunology       Date:  2017-05-26
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