Literature DB >> 27004690

The Evolving Landscape of Primary Immunodeficiencies.

Andrew R Gennery1.   

Abstract

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Year:  2016        PMID： 27004690     DOI： 10.1007/s10875-016-0273-6

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


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  5 in total

1.  Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Authors:  Kerstin Felgentreff; Sachin N Baxi; Yu Nee Lee; Kerry Dobbs; Lauren A Henderson; Krisztian Csomos; Erdyni N Tsitsikov; Mary Armanios; Jolan E Walter; Luigi D Notarangelo
Journal:  J Clin Immunol       Date:  2016-04-11       Impact factor: 8.317

2.  Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Authors:  Susan Price; Pamela A Shaw; Amy Seitz; Gyan Joshi; Joie Davis; Julie E Niemela; Katie Perkins; Ronald L Hornung; Les Folio; Philip S Rosenberg; Jennifer M Puck; Amy P Hsu; Bernice Lo; Stefania Pittaluga; Elaine S Jaffe; Thomas A Fleisher; V Koneti Rao; Michael J Lenardo
Journal:  Blood       Date:  2014-01-07       Impact factor: 22.113

3.  XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

Authors:  Chaowan Guo; Yuka Nakazawa; Lisa Woodbine; Andrea Björkman; Mayuko Shimada; Heather Fawcett; Nan Jia; Kaname Ohyama; Tao-Sheng Li; Yuji Nagayama; Norisato Mitsutake; Qiang Pan-Hammarström; Andrew R Gennery; Alan R Lehmann; Penny A Jeggo; Tomoo Ogi
Journal:  J Allergy Clin Immunol       Date:  2015-08-05       Impact factor: 10.793

4.  Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Authors:  Jolan E Walter; Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Bleesing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz T Costa-Carvalho; Joao Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D Notarangelo
Journal:  J Clin Invest       Date:  2015-10-12       Impact factor: 14.808

5.  Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Authors:  Ulrich Salzer; Chiara Bacchelli; Sylvie Buckridge; Qiang Pan-Hammarström; Stephanie Jennings; Vassilis Lougaris; Astrid Bergbreiter; Tina Hagena; Jennifer Birmelin; Alessandro Plebani; A David B Webster; Hans-Hartmut Peter; Daniel Suez; Helen Chapel; Andrew McLean-Tooke; Gavin P Spickett; Stephanie Anover-Sombke; Hans D Ochs; Simon Urschel; Bernd H Belohradsky; Sanja Ugrinovic; Dinakantha S Kumararatne; Tatiana C Lawrence; Are M Holm; Jose L Franco; Ilka Schulze; Pascal Schneider; E Michael Gertz; Alejandro A Schäffer; Lennart Hammarström; Adrian J Thrasher; H Bobby Gaspar; Bodo Grimbacher
Journal:  Blood       Date:  2008-11-03       Impact factor: 22.113
  5 in total
  2 in total

1.  Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Authors:  Sevgi Kostel Bal; Sule Haskologlu; Nina K Serwas; Candan Islamoglu; Caner Aytekin; Tanil Kendirli; Zarife Kuloglu; Gulsan Yavuz; Buket Dalgic; Zeynep Siklar; Aydan Kansu; Arzu Ensari; Kaan Boztug; Figen Dogu; Aydan Ikinciogullari
Journal:  J Clin Immunol       Date:  2017-09-27       Impact factor: 8.317

2.  Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Authors:  Arun Kumar Arunachalam; Madhavi Maddali; Fouzia N Aboobacker; Anu Korula; Biju George; Vikram Mathews; Eunice Sindhuvi Edison
Journal:  J Clin Immunol       Date:  2020-11-23       Impact factor: 8.317
  2 in total

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