Literature DB >> 22078572

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.

Hidenori Ohnishi, Rie Miyata, Tomonori Suzuki, Touichiro Nose, Kazuo Kubota, Zenichiro Kato, Hideo Kaneko, Naomi Kondo.   

Abstract

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Year:  2011        PMID： 22078572     DOI： 10.1016/j.jaci.2011.09.042

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


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  16 in total

Review 1.  Primary antibody deficiencies.

Authors:  Anne Durandy; Sven Kracker; Alain Fischer
Journal:  Nat Rev Immunol       Date:  2013-06-14       Impact factor: 53.106

2.  Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Authors:  Hidenori Ohnishi; Yuka Kishimoto; Tomohide Taguchi; Norio Kawamoto; Mina Nakama; Tomoki Kawai; Manabu Nakayama; Osamu Ohara; Kenji Orii; Toshiyuki Fukao
Journal:  J Clin Immunol       Date:  2017-07-12       Impact factor: 8.317

3.  A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation.

Authors:  Masayuki Nagasawa; Teppei Ohkawa; Masatoshi Takagi; Kohsuke Imai; Tomohiro Morio
Journal:  J Clin Immunol       Date:  2017-02-21       Impact factor: 8.317

4.  IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.

Authors:  Kunihiko Moriya; Yoji Sasahara; Hidenori Ohnishi; Tomoki Kawai; Hirokazu Kanegane
Journal:  J Clin Immunol       Date:  2018-06-14       Impact factor: 8.317

5.  Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

Authors:  Daniel Petersheim; Michel J Massaad; Saetbyul Lee; Alessia Scarselli; Caterina Cancrini; Kunihiko Moriya; Yoji Sasahara; Arjan C Lankester; Morna Dorsey; Daniela Di Giovanni; Liliana Bezrodnik; Hidenori Ohnishi; Ryuta Nishikomori; Kay Tanita; Hirokazu Kanegane; Tomohiro Morio; Erwin W Gelfand; Ashish Jain; Elizabeth Secord; Capucine Picard; Jean-Laurent Casanova; Michael H Albert; Troy R Torgerson; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2017-06-17       Impact factor: 10.793

Review 6.  Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Authors:  Bertrand Boisson; Anne Puel; Capucine Picard; Jean-Laurent Casanova
Journal:  J Clin Immunol       Date:  2017-06-09       Impact factor: 8.317

Review 7.  IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Authors:  Anna Senegas; Jérémie Gautheron; Alice Gentil Dit Maurin; Gilles Courtois
Journal:  Cell Mol Life Sci       Date:  2014-11-29       Impact factor: 9.261

8.  Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.

Authors:  Enrica Ek Tan; Richard A Hopkins; Chrissie K Lim; Saumya S Jamuar; Christina Ong; Koh C Thoon; Mark Ja Koh; Eun Mong Shin; Derrick Wq Lian; Madhushanee Weerasooriya; Christopher Zw Lee; Andreas Alvin Pumomo Soetedjo; Chang Siang Lim; Veonice B Au; Edmond Chua; Hui Yin Lee; Leigh Ann Jones; Sharmy S James; Nivashini Kaliaperumal; Jeffery Kwok; Ee Shien Tan; Biju Thomas; Lynn Xue Wu; Lena Ho; Anna Marie Fairhurst; Florent Ginhoux; Adrian Kk Teo; Yong Liang Zhang; Kok Huar Ong; Weimiao Yu; Byrappa Venkatesh; Vinay Tergaonkar; Bruno Reversade; Keh Chuang Chin; Ah Moy Tan; Woei Kang Liew; John E Connolly
Journal:  J Clin Invest       Date:  2020-11-02       Impact factor: 14.808

9.  A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Authors:  Lena F Schimke; Nikolaus Rieber; Stacey Rylaarsdam; Otávio Cabral-Marques; Nicholas Hubbard; Anne Puel; Laura Kallmann; Stephanie Anover Sombke; Gundula Notheis; Hans-Peter Schwarz; Birgit Kammer; Tomas Hökfelt; Reinald Repp; Capucine Picard; Jean-Laurent Casanova; Bernd H Belohradsky; Michael H Albert; Hans D Ochs; Ellen D Renner; Troy R Torgerson
Journal:  J Clin Immunol       Date:  2013-05-25       Impact factor: 8.317

10.  Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

Authors:  Takakazu Yoshioka; Ryuta Nishikomori; Junichi Hara; Keiko Okada; Yoshiko Hashii; Ikuo Okafuji; Seishiro Nodomi; Tomoki Kawai; Kazushi Izawa; Hidenori Ohnishi; Takahiro Yasumi; Tatsutoshi Nakahata; Toshio Heike
Journal:  J Clin Immunol       Date:  2013-07-18       Impact factor: 8.317
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