Literature DB >> 31089937

IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.

Yannick Dieudonné1,2,3, Aurélien Guffroy1,2,3, Olivier Vollmer2, Raphael Carapito3,4,5, Anne-Sophie Korganow6,7,8.   

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Year:  2019        PMID： 31089937     DOI： 10.1007/s10875-019-00643-2

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


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  15 in total

1.  Expression of a non-DNA-binding Ikaros isoform exclusively in B cells leads to autoimmunity but not leukemogenesis.

Authors:  Heather Wojcik; Erin Griffiths; Sarah Staggs; James Hagman; Susan Winandy
Journal:  Eur J Immunol       Date:  2007-04       Impact factor: 5.532

2.  Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Authors:  H S Kuehn; B Boisson; M E Conley; S D Rosenzweig; C Cunningham-Rundles; J Reichenbach; A Stray-Pedersen; E W Gelfand; P Maffucci; K R Pierce; J K Abbott; K V Voelkerding; S T South; N H Augustine; J S Bush; W K Dolen; B B Wray; Y Itan; A Cobat; H S Sorte; S Ganesan; S Prader; T B Martins; M G Lawrence; J S Orange; K R Calvo; J E Niemela; J-L Casanova; T A Fleisher; H R Hill; A Kumánovics
Journal:  N Engl J Med       Date:  2016-03-17       Impact factor: 91.245

3.  The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency.

Authors:  Susanne Unger; Maximilian Seidl; Pauline van Schouwenburg; Mirzokhid Rakhmanov; Alla Bulashevska; Natalie Frede; Bodo Grimbacher; Jens Pfeiffer; Klaudia Schrenk; Luis Munoz; Leif Hanitsch; Ina Stumpf; Fabian Kaiser; Oliver Hausmann; Florian Kollert; Sigune Goldacker; Mirjam van der Burg; Baerbel Keller; Klaus Warnatz
Journal:  J Allergy Clin Immunol       Date:  2017-05-26       Impact factor: 10.793

4.  TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population.

Authors:  C-F He; Y-S Liu; Y-L Cheng; J-P Gao; T-M Pan; J-W Han; C Quan; L-D Sun; H-F Zheng; X-B Zuo; S-X Xu; Y-J Sheng; S Yao; W-L Hu; Y Li; Z-Y Yu; X-Y Yin; X-J Zhang; Y Cui; S Yang
Journal:  Lupus       Date:  2010-06-01       Impact factor: 2.911

5.  Ikaros is critical for B cell differentiation and function.

Authors:  Peggy Kirstetter; Mireille Thomas; Andrée Dierich; Philippe Kastner; Susan Chan
Journal:  Eur J Immunol       Date:  2002-03       Impact factor: 5.532

6.  BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros.

Authors:  Charles G Mullighan; Christopher B Miller; Ina Radtke; Letha A Phillips; James Dalton; Jing Ma; Deborah White; Timothy P Hughes; Michelle M Le Beau; Ching-Hon Pui; Mary V Relling; Sheila A Shurtleff; James R Downing
Journal:  Nature       Date:  2008-04-13       Impact factor: 49.962

7.  Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Authors:  Akihiro Hoshino; Satoshi Okada; Kenichi Yoshida; Naonori Nishida; Yusuke Okuno; Hiroo Ueno; Motoi Yamashita; Tsubasa Okano; Miyuki Tsumura; Shiho Nishimura; Sonoko Sakata; Masao Kobayashi; Haruna Nakamura; Junji Kamizono; Kanako Mitsui-Sekinaka; Takuya Ichimura; Shouichi Ohga; Yozo Nakazawa; Masatoshi Takagi; Kohsuke Imai; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Seishi Ogawa; Seiji Kojima; Shigeaki Nonoyama; Tomohiro Morio; Hirokazu Kanegane
Journal:  J Allergy Clin Immunol       Date:  2016-12-06       Impact factor: 10.793

8.  Ikaros Is a Negative Regulator of B1 Cell Development and Function.

Authors:  Alejandra Macias-Garcia; Beate Heizmann; MacLean Sellars; Patricia Marchal; Hayet Dali; Jean-Louis Pasquali; Sylviane Muller; Philippe Kastner; Susan Chan
Journal:  J Biol Chem       Date:  2016-02-03       Impact factor: 5.157

9.  A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

Authors:  Delfien J Bogaert; Hye Sun Kuehn; Carolien Bonroy; Katherine R Calvo; Joke Dehoorne; Arnaud V Vanlander; Marieke De Bruyne; Urszula Cytlak; Venetia Bigley; Frans De Baets; Elfride De Baere; Sergio D Rosenzweig; Filomeen Haerynck; Melissa Dullaers
Journal:  J Allergy Clin Immunol       Date:  2017-09-18       Impact factor: 10.793

10.  Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.

Authors:  Chuan Wang; Annika Ahlford; Tiina M Järvinen; Gunnel Nordmark; Maija-Leena Eloranta; Iva Gunnarsson; Elisabet Svenungsson; Leonid Padyukov; Gunnar Sturfelt; Andreas Jönsen; Anders A Bengtsson; Lennart Truedsson; Catharina Eriksson; Solbritt Rantapää-Dahlqvist; Christopher Sjöwall; Heikki Julkunen; Lindsey A Criswell; Robert R Graham; Timothy W Behrens; Juha Kere; Lars Rönnblom; Ann-Christine Syvänen; Johanna K Sandling
Journal:  Eur J Hum Genet       Date:  2012-12-19       Impact factor: 4.246
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  6 in total

Review 1.  IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Authors:  Cristiane J Nunes-Santos; Hye Sun Kuehn; Sergio D Rosenzweig
Journal:  Immunol Allergy Clin North Am       Date:  2020-08       Impact factor: 3.479

Review 2.  IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Authors:  Hye Sun Kuehn; Cristiane J Nunes-Santos; Sergio D Rosenzweig
Journal:  J Clin Immunol       Date:  2021-01-03       Impact factor: 8.317

Review 3.  Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Authors:  Hye Sun Kuehn; Cristiane J Nunes-Santos; Sergio D Rosenzweig
Journal:  Expert Rev Clin Immunol       Date:  2021-03-19       Impact factor: 4.473

4.  Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Authors:  Hye Sun Kuehn; Julie E Niemela; Jennifer Stoddard; Sara Ciullini Mannurita; Tala Shahin; Shubham Goel; Mary Hintermeyer; Raul Jimenez Heredia; Mary Garofalo; Laura Lucas; Smriti Singh; Annalisa Tondo; Zachary Jacobs; William A Gahl; Sylvain Latour; James Verbsky; John Routes; Charlotte Cunningham-Rundles; Kaan Boztug; Eleonora Gambineri; Thomas A Fleisher; Shanmuganathan Chandrakasan; Sergio D Rosenzweig
Journal:  Blood       Date:  2021-01-21       Impact factor: 25.476

Review 5.  Ikaros Proteins in Tumor: Current Perspectives and New Developments.

Authors:  Ruolan Xia; Yuan Cheng; Xuejiao Han; Yuquan Wei; Xiawei Wei
Journal:  Front Mol Biosci       Date:  2021-12-07

6.  Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Authors:  Seth A Brodie; Payal P Khincha; Neelam Giri; Aaron J Bouk; Mia Steinberg; Jieqiong Dai; Lea Jessop; Frank X Donovan; Settara C Chandrasekharappa; Kelvin C de Andrade; Irina Maric; Steven R Ellis; Lisa Mirabello; Blanche P Alter; Sharon A Savage
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-08-02
  6 in total

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