Literature DB >> 28096536

Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia.

N Yoshida1, H Sakaguchi1,2, H Muramatsu2, Y Okuno2,3, C Song4, S Dovat4, A Shimada2, M Ozeki5, H Ohnishi5, T Teramoto5, T Fukao5, N Kondo5, Y Takahashi2, K Matsumoto1, K Kato1, S Kojima2.   

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Year:  2017        PMID： 28096536     DOI： 10.1038/leu.2017.25

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  18 in total

1.  Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Authors:  David Boutboul; Hye Sun Kuehn; Zoé Van de Wyngaert; Julie E Niemela; Isabelle Callebaut; Jennifer Stoddard; Christelle Lenoir; Vincent Barlogis; Catherine Farnarier; Frédéric Vely; Nao Yoshida; Seiji Kojima; Hirokazu Kanegane; Akihiro Hoshino; Fabian Hauck; Ludovic Lhermitte; Vahid Asnafi; Philip Roehrs; Shaoying Chen; James W Verbsky; Katherine R Calvo; Ammar Husami; Kejian Zhang; Joseph Roberts; David Amrol; John Sleaseman; Amy P Hsu; Steven M Holland; Rebecca Marsh; Alain Fischer; Thomas A Fleisher; Capucine Picard; Sylvain Latour; Sergio D Rosenzweig
Journal:  J Clin Invest       Date:  2018-06-11       Impact factor: 14.808

2.  Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.

Authors:  Adam J de Smith; Geneviève Lavoie; Kyle M Walsh; Sumeet Aujla; Erica Evans; Helen M Hansen; Ivan Smirnov; Alice Y Kang; Martin Zenker; John J Ceremsak; Elliot Stieglitz; Ivo S Muskens; William Roberts; Roberta McKean-Cowdin; Catherine Metayer; Philippe P Roux; Joseph L Wiemels
Journal:  Genes Chromosomes Cancer       Date:  2019-05-27       Impact factor: 5.006

3.  Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.

Authors:  Tekla Järviaho; Benedicte Bang; Vasilios Zachariadis; Fulya Taylan; Jukka Moilanen; Merja Möttönen; C I Edvard Smith; Arja Harila-Saari; Riitta Niinimäki; Ann Nordgren
Journal:  Blood Adv       Date:  2019-09-24

Review 4.  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 5.  Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Authors:  Jeffery M Klco; Charles G Mullighan
Journal:  Nat Rev Cancer       Date:  2020-12-16       Impact factor: 60.716

6.  Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.

Authors:  Panida Sriaroon; Yenhui Chang; Boglarka Ujhazi; Krisztian Csomos; Hemant R Joshi; Qin Zhou; Devin W Close; Jolan E Walter; Attila Kumánovics
Journal:  Front Pediatr       Date:  2019-04-24       Impact factor: 3.418

7.  A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

Authors:  Hye Sun Kuehn; Kazuki Okuyama; Motoi Yamashita; Satoshi Okada; Yuzaburo Inoue; Noriko Mitsuiki; Kohsuke Imai; Masatoshi Takagi; Hirokazu Kanegane; Masahiro Takeuchi; Naoki Shimojo; Miyuki Tsumura; Aditya K Padhi; Kam Y J Zhang; Bertrand Boisson; Jean-Laurent Casanova; Osamu Ohara; Sergio D Rosenzweig; Ichiro Taniuchi; Tomohiro Morio
Journal:  Nat Immunol       Date:  2021-06-21       Impact factor: 25.606

Review 8.  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

9.  Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

Authors:  Ebru Yilmaz; Hye S Kuehn; Eda Odakir; Julie E Niemela; Alper Ozcan; Ahmet Eken; Meino Rohlfs; Murat Cansever; Veysel Gok; Firdevs Aydin; Musa Karakukcu; Fabian Hauck; Christoph Klein; Ekrem Unal; Sergio D Rosenzweig; Turkan Patiroglu
Journal:  J Pediatr Hematol Oncol       Date:  2021-04-01       Impact factor: 1.170

10.  Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Authors:  Janne Strand; Kiran Aftab Gul; Hans Christian Erichsen; Emma Lundman; Mona C Berge; Anette K Trømborg; Linda K Sørgjerd; Mari Ytre-Arne; Silje Hogner; Ruth Halsne; Hege Junita Gaup; Liv T Osnes; Grete A B Kro; Hanne S Sorte; Lars Mørkrid; Alexander D Rowe; Trine Tangeraas; Jens V Jørgensen; Charlotte Alme; Trude E H Bjørndalen; Arild E Rønnestad; Astri M Lang; Terje Rootwelt; Jochen Buechner; Torstein Øverland; Tore G Abrahamsen; Rolf D Pettersen; Asbjørg Stray-Pedersen
Journal:  Front Immunol       Date:  2020-07-09       Impact factor: 7.561
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