Literature DB >> 26691317

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

Alison Joanne Lee1, Marcela Moncada-Vélez2,3, Capucine Picard4,5,6,7, Genevieve Llanora8, Chiung-Hui Huang8, Laurent Abel4,5, Si Min Chan9,10, Bee-Wah Lee8,10, Jean-Laurent Casanova2,4,5,6,11, Jacinta Bustamante2,4,5,7, Lynette Pei-Chi Shek8,10, Stéphanie Boisson-Dupuis12,13.   

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Year:  2015        PMID： 26691317      PMCID： PMC4720548          DOI： 10.1007/s10875-015-0223-8

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


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  5 in total

Review 1.  Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors:  Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2015-01-31       Impact factor: 7.486

Review 2.  Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.

Authors:  Capucine Picard; Jean-Laurent Casanova; Anne Puel
Journal:  Clin Microbiol Rev       Date:  2011-07       Impact factor: 26.132

3.  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

Review 4.  Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jamila El-Baghdadi; Yildiz Camcioglu; Nima Parvaneh; Safaa El Azbaoui; Aomar Agader; Amal Hassani; Naima El Hafidi; Nidal Alaoui Mrani; Zineb Jouhadi; Fatima Ailal; Jilali Najib; Ismail Reisli; Adil Zamani; Sebnem Yosunkaya; Saniye Gulle-Girit; Alisan Yildiran; Funda Erol Cipe; Selda Hancerli Torun; Ayse Metin; Basak Yildiz Atikan; Nevin Hatipoglu; Cigdem Aydogmus; Sara Sebnem Kilic; Figen Dogu; Neslihan Karaca; Guzide Aksu; Necil Kutukculer; Melike Keser-Emiroglu; Ayper Somer; Gonul Tanir; Caner Aytekin; Parisa Adimi; Seyed Alireza Mahdaviani; Setareh Mamishi; Aziz Bousfiha; Ozden Sanal; Davood Mansouri; Jean-Laurent Casanova; Laurent Abel
Journal:  Immunol Rev       Date:  2015-03       Impact factor: 12.988

5.  The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

Authors:  Riny Janssen; Annelies van Wengen; Marieke A Hoeve; Monique ten Dam; Miriam van der Burg; Jacques van Dongen; Esther van de Vosse; Maarten van Tol; Robbert Bredius; Tom H Ottenhoff; Corry Weemaes; Jaap T van Dissel; Arjan Lankester
Journal:  J Exp Med       Date:  2004-08-30       Impact factor: 14.307
  5 in total
  8 in total

1.  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

2.  Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Authors:  Bertrand Boisson; Yoshitaka Honda; Masahiko Ajiro; Jacinta Bustamante; Matthieu Bendavid; Andrew R Gennery; Yuri Kawasaki; Jose Ichishima; Mitsujiro Osawa; Hiroshi Nihira; Takeshi Shiba; Takayuki Tanaka; Maya Chrabieh; Benedetta Bigio; Hong Hur; Yuval Itan; Yupu Liang; Satoshi Okada; Kazushi Izawa; Ryuta Nishikomori; Osamu Ohara; Toshio Heike; Laurent Abel; Anne Puel; Megumu K Saito; Jean-Laurent Casanova; Masatoshi Hagiwara; Takahiro Yasumi
Journal:  J Clin Invest       Date:  2018-12-18       Impact factor: 14.808

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

Review 4.  The monogenic basis of human tuberculosis.

Authors:  Stephanie Boisson-Dupuis
Journal:  Hum Genet       Date:  2020-02-13       Impact factor: 4.132

5.  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

Review 6.  The Child with Recurrent Mycobacterial Disease.

Authors:  Brian Reed; William K Dolen
Journal:  Curr Allergy Asthma Rep       Date:  2018-06-23       Impact factor: 4.806

7.  Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

Authors:  Emily Staples; Beatriz Morillo-Gutierrez; Jessica Davies; Daniel Petersheim; Michel Massaad; Mary Slatter; Dimitra Dimou; Rainer Doffinger; Scott Hackett; Dinkantha Kumararatne; James Hadfield; Matthew D Eldridge; Raif S Geha; Mario Abinun; James E D Thaventhiran
Journal:  J Clin Immunol       Date:  2017-04-17       Impact factor: 8.317

8.  Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Authors:  Charline Miot; Kohsuke Imai; Chihaya Imai; Anthony J Mancini; Zeynep Yesim Kucuk; Tokomki Kawai; Ryuta Nishikomori; Etsuro Ito; Isabelle Pellier; Sophie Dupuis Girod; Jeremie Rosain; Shinya Sasaki; Shanmuganathan Chandrakasan; Jana Pachlopnik Schmid; Tsubasa Okano; Estelle Colin; Alberto Olaya-Vargas; Marco Yamazaki-Nakashimada; Waseem Qasim; Sara Espinosa Padilla; Andrea Jones; Alfons Krol; Nyree Cole; Stephen Jolles; Jack Bleesing; Thomas Vraetz; Andrew R Gennery; Mario Abinun; Tayfun Güngör; Beatriz Costa-Carvalho; Antonio Condino-Neto; Paul Veys; Steven M Holland; Gulbu Uzel; Despina Moshous; Benedicte Neven; Stéphane Blanche; Stephan Ehl; Rainer Döffinger; Smita Y Patel; Anne Puel; Jacinta Bustamante; Erwin W Gelfand; Jean-Laurent Casanova; Jordan S Orange; Capucine Picard
Journal:  Blood       Date:  2017-07-05       Impact factor: 22.113
  8 in total

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