Literature DB >> 27470647

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation.

Bustamante J1,2,3,4, Kutukculer N5, Karaca Ne5, Aksu G5, Ulusoy E5, Cavusoglu C6, Oleaga-Quintas C1,2, Nieto-Patlan A1,2, Richard Me1,2, Deswarte C1,2, Casanova Jl1,2,3,7,8.   

Abstract

Entities:  

Keywords:  BCG-osis; Ectodermal dysplasia; Hyperferritinemia; Interferon; NEMO mutation

Mesh：

Substances：

Year:  2016        PMID： 27470647      PMCID： PMC5038349          DOI： 10.18176/jiaci.0068

Source DB:  PubMed          Journal:  J Investig Allergol Clin Immunol        ISSN： 1018-9068            Impact factor:   4.333


× No keyword cloud information.
  10 in total

1.  Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation.

Authors:  Jana M Pachlopnik Schmid; Sonja A Junge; Johann Peter Hossle; E Marion Schneider; Eddy Roosnek; Reinhard A Seger; Tayfun Gungor
Journal:  Pediatrics       Date:  2006-04-24       Impact factor: 7.124

2.  Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

Authors:  Margje H Haverkamp; Beatriz E Marciano; David M Frucht; Ashish Jain; Esther van de Vosse; Steven M Holland
Journal:  J Clin Immunol       Date:  2014-02-28       Impact factor: 8.317

Review 3.  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

4.  Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique.

Authors:  Güzide Aksu; Ferah Genel; Güldane Koturoğlu; Zafer Kurugöl; Necil Kütükçüler
Journal:  Turk J Pediatr       Date:  2006 Jan-Mar       Impact factor: 0.552

5.  BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

Authors:  Beatriz E Marciano; Chiung-Yu Huang; Gyan Joshi; Nima Rezaei; Beatriz Costa Carvalho; Zoe Allwood; Aydan Ikinciogullari; Shereen M Reda; Andrew Gennery; Vojtech Thon; Francisco Espinosa-Rosales; Waleed Al-Herz; Oscar Porras; Anna Shcherbina; Anna Szaflarska; Şebnem Kiliç; Jose L Franco; Andrea C Gómez Raccio; Persio Roxo; Isabel Esteves; Nermeen Galal; Anete Sevciovic Grumach; Salem Al-Tamemi; Alisan Yildiran; Julio C Orellana; Masafumi Yamada; Tomohiro Morio; Diana Liberatore; Yoshitoshi Ohtsuka; Yu-Lung Lau; Ryuta Nishikomori; Carlos Torres-Lozano; Juliana T L Mazzucchelli; Maria M S Vilela; Fabiola S Tavares; Luciana Cunha; Jorge A Pinto; Sara E Espinosa-Padilla; Leticia Hernandez-Nieto; Reem A Elfeky; Tadashi Ariga; Heike Toshio; Figen Dogu; Funda Cipe; Renata Formankova; M Enriqueta Nuñez-Nuñez; Liliana Bezrodnik; Jose Gonçalo Marques; María I Pereira; Viviana Listello; Mary A Slatter; Zohreh Nademi; Danuta Kowalczyk; Thomas A Fleisher; Graham Davies; Bénédicte Neven; Sergio D Rosenzweig
Journal:  J Allergy Clin Immunol       Date:  2014-04       Impact factor: 10.793

Review 6.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

7.  The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Authors:  Anne Puel; Janine Reichenbach; Jacinta Bustamante; Cheng-Lung Ku; Jacqueline Feinberg; Rainer Döffinger; Marion Bonnet; Orchidée Filipe-Santos; Ludovic de Beaucoudrey; Anne Durandy; Gerd Horneff; Francesco Novelli; Volker Wahn; Asma Smahi; Alain Israel; Tim Niehues; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2006-02-15       Impact factor: 11.025

8.  Causes and significance of markedly elevated serum ferritin levels in an academic medical center.

Authors:  Charles Moore; Michelle Ormseth; Howard Fuchs
Journal:  J Clin Rheumatol       Date:  2013-09       Impact factor: 3.517

9.  Hepatic tuberculosis presenting with extreme hyperferritinemia masquerading as adult-onset Still's disease: a case report.

Authors:  Edirisooriya Maddumage Manoj; Rajini Srigrishna; Murugapillai K Ragunathan
Journal:  J Med Case Rep       Date:  2012-07-12

10.  X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Authors:  Orchidée Filipe-Santos; Jacinta Bustamante; Margje H Haverkamp; Emilie Vinolo; Cheng-Lung Ku; Anne Puel; David M Frucht; Karin Christel; Horst von Bernuth; Emmanuelle Jouanguy; Jacqueline Feinberg; Anne Durandy; Brigitte Senechal; Ariane Chapgier; Guillaume Vogt; Ludovic de Beaucoudrey; Claire Fieschi; Capucine Picard; Meriem Garfa; Jalel Chemli; Mohamed Bejaoui; Maria N Tsolia; Necil Kutukculer; Alessandro Plebani; Luigi Notarangelo; Christine Bodemer; Frédéric Geissmann; Alain Israël; Michel Véron; Maike Knackstedt; Ridha Barbouche; Laurent Abel; Klaus Magdorf; Dominique Gendrel; Fabrice Agou; Steven M Holland; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2006-07-03       Impact factor: 14.307
  10 in total
  3 in total

1.  BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw.

Authors:  Ewa Bernatowska; Małgorzata Pac; Edyta Heropolitańska-Pliszka; Barbara Pietrucha; Nel Dąbrowska-Leonik; Małgorzata Skomska-Pawliszak; Katarzyna Bernat-Sitarz; Katarzyna Krzysztopa-Grzybowska; Beata Wolska-Kuśnierz; Nadia Bohynikova; Ewa Augustynowicz; Ewa Augustynowicz-Kopeć; Maria Korzeniewska-Koseła; Anna Wieteska-Klimczak; Janusz Książyk; Teresa Jackowska; Mirjam van den Burg; Jean-Laurent Casanova; Capucine Picard; Bożena Mikołuć
Journal:  Front Pediatr       Date:  2022-05-19       Impact factor: 3.569

Review 2.  Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:  Jérémie Rosain; Xiao-Fei Kong; Ruben Martinez-Barricarte; Carmen Oleaga-Quintas; Noé Ramirez-Alejo; Janet Markle; Satoshi Okada; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Immunol Cell Biol       Date:  2018-10-25       Impact factor: 5.126

Review 3.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.