Literature DB >> 29948576

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

Kunihiko Moriya1, Yoji Sasahara2, Hidenori Ohnishi3, Tomoki Kawai4, Hirokazu Kanegane5.   

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Year:  2018        PMID： 29948576     DOI： 10.1007/s10875-018-0522-y

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


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  5 in total

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

Authors:  Hidenori Ohnishi; Rie Miyata; Tomonori Suzuki; Touichiro Nose; Kazuo Kubota; Zenichiro Kato; Hideo Kaneko; Naomi Kondo
Journal:  J Allergy Clin Immunol       Date:  2011-11-10       Impact factor: 10.793

2.  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 3.  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

4.  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

5.  A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

Authors:  Gilles Courtois; Asma Smahi; Janine Reichenbach; Rainer Döffinger; Caterina Cancrini; Marion Bonnet; Anne Puel; Christine Chable-Bessia; Shoji Yamaoka; Jacqueline Feinberg; Sophie Dupuis-Girod; Christine Bodemer; Susanna Livadiotti; Francesco Novelli; Paolo Rossi; Alain Fischer; Alain Israël; Arnold Munnich; Françoise Le Deist; Jean-Laurent Casanova
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808
  5 in total
  5 in total

Review 1.  The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.

Authors:  Bertrand Boisson
Journal:  Hum Genet       Date:  2020-01-24       Impact factor: 4.132

2.  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

3.  T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.

Authors:  Stephanie Heller; Uwe Kölsch; Thomas Magg; Renate Krüger; Andrea Scheuern; Holm Schneider; Anna Eichinger; Volker Wahn; Nadine Unterwalder; Myriam Lorenz; Klaus Schwarz; Christian Meisel; Ansgar Schulz; Fabian Hauck; Horst von Bernuth
Journal:  J Clin Immunol       Date:  2020-01-21       Impact factor: 8.317

4.  A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.

Authors:  Wen Wen; Li Wang; Mengyue Deng; Yue Li; Xuemei Tang; Huawei Mao; Xiaodong Zhao
Journal:  Genes Dis       Date:  2021-04-03

Review 5.  Targeting NF-κB pathway for the therapy of diseases: mechanism and clinical study.

Authors:  Hui Yu; Liangbin Lin; Zhiqiang Zhang; Huiyuan Zhang; Hongbo Hu
Journal:  Signal Transduct Target Ther       Date:  2020-09-21
  5 in total

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