Literature DB >> 25678089

A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens.

Janet Chou1, Michel J Massaad1, Brittney Cangemi1, Wayne Bainter1, Craig Platt1, Yousef R Badran1, Bram P Raphael2, Daniel S Kamin2, Jeffrey D Goldsmith3, Sung-Yun Pai4, Waleed Al-Herz5, Raif S Geha6.   

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Year:  2015        PMID： 25678089     DOI： 10.1016/j.jaci.2014.12.1940

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


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  12 in total

1.  A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.

Authors:  Janet Chou; Yousef R Badran; Christina S K Yee; Wayne Bainter; Toshiro K Ohsumi; Suleiman Al-Hammadi; Sung-Yun Pai; Stefan Feske; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2015-06-09       Impact factor: 10.793

Review 2.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

3.  Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency.

Authors:  Leila Youssefian; Amir Hossein Saeidian; Ali Reza Tavasoli; Elnaz Kalamati; Karim Naghipoor; Amir Hozhabrpour; Mehrnaz Mesdaghi; Zahra Saffarian; Hamidreza Mahmoudi; Mohammad Nabavi; Sima Shokri; Sirous Zeinali; Vivien Béziat; Jean-Laurent Casanova; Emmanuelle Jouanguy; Jouni Uitto; Hassan Vahidnezhad
Journal:  J Invest Dermatol       Date:  2022-03-08       Impact factor: 7.590

4.  Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.

Authors:  Nic Robertson; Karin R Engelhardt; Neil V Morgan; Dawn Barge; Andrew J Cant; Stephen M Hughes; Mario Abinun; Yaobo Xu; Mauro Santibanez Koref; Peter D Arkwright; Sophie Hambleton
Journal:  J Clin Immunol       Date:  2015-09-23       Impact factor: 8.317

Review 5.  Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.

Authors:  Michael Seleman; Rodrigo Hoyos-Bachiloglu; Raif S Geha; Janet Chou
Journal:  Front Immunol       Date:  2017-07-24       Impact factor: 7.561

Review 6.  Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.

Authors:  Jodie Ouahed; Elizabeth Spencer; Daniel Kotlarz; Dror S Shouval; Matthew Kowalik; Kaiyue Peng; Michael Field; Leslie Grushkin-Lerner; Sung-Yun Pai; Athos Bousvaros; Judy Cho; Carmen Argmann; Eric Schadt; Dermot P B Mcgovern; Michal Mokry; Edward Nieuwenhuis; Hans Clevers; Fiona Powrie; Holm Uhlig; Christoph Klein; Aleixo Muise; Marla Dubinsky; Scott B Snapper
Journal:  Inflamm Bowel Dis       Date:  2020-05-12       Impact factor: 5.325

Review 7.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

8.  Inducible T-cell co-stimulator ligand (ICOSL) blockade leads to selective inhibition of anti-KLH IgG responses in subjects with systemic lupus erythematosus.

Authors:  B A Sullivan; W Tsuji; A Kivitz; J Peng; G E Arnold; M J Boedigheimer; K Chiu; C L Green; A Kaliyaperumal; C Wang; J Ferbas; J B Chung
Journal:  Lupus Sci Med       Date:  2016-04-08

9.  14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency.

Authors:  Johanna Schepp; Janet Chou; Andrea Skrabl-Baumgartner; Peter D Arkwright; Karin R Engelhardt; Sophie Hambleton; Tomohiro Morio; Ekkehard Röther; Klaus Warnatz; Raif Geha; Bodo Grimbacher
Journal:  Front Immunol       Date:  2017-08-16       Impact factor: 7.561

Review 10.  "Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

Authors:  Sophie Jung; Laura Gámez-Díaz; Michele Proietti; Bodo Grimbacher
Journal:  Front Immunol       Date:  2018-05-09       Impact factor: 7.561
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