Literature DB >> 22268731

Hyper-IgE syndrome update.

Kathryn J Sowerwine1, Steven M Holland, Alexandra F Freeman.   

Abstract

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.
© 2012 New York Academy of Sciences.

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Year:  2012        PMID： 22268731      PMCID： PMC4103910          DOI： 10.1111/j.1749-6632.2011.06387.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


  69 in total

1.  Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

Authors:  Hong Jiao; Beáta Tóth; Melinda Erdos; Ingegerd Fransson; Eva Rákóczi; István Balogh; Zoltán Magyarics; Beáta Dérfalvi; Gabriella Csorba; Anna Szaflarska; Andre Megarbane; Carlo Akatcherian; Ghassan Dbaibo; Eva Rajnavölgyi; Lennart Hammarström; Juha Kere; Gérard Lefranc; László Maródi
Journal:  Mol Immunol       Date:  2008-08-15       Impact factor: 4.407

2.  Treatment of Staphylococcus aureus colonization in atopic dermatitis decreases disease severity.

Authors:  Jennifer T Huang; Melissa Abrams; Brook Tlougan; Alfred Rademaker; Amy S Paller
Journal:  Pediatrics       Date:  2009-05       Impact factor: 7.124

3.  Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.

Authors:  Joshua D Milner; Jason M Brenchley; Arian Laurence; Alexandra F Freeman; Brenna J Hill; Kevin M Elias; Yuka Kanno; Christine Spalding; Houda Z Elloumi; Michelle L Paulson; Joie Davis; Amy Hsu; Ava I Asher; John O'Shea; Steven M Holland; William E Paul; Daniel C Douek
Journal:  Nature       Date:  2008-03-12       Impact factor: 49.962

4.  Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

Authors:  D L Domingo; A F Freeman; J Davis; J M Puck; W Tianxia; S M Holland; T C Hart
Journal:  Oral Dis       Date:  2008-01       Impact factor: 3.511

5.  Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

Authors:  Ellen D Renner; Stacey Rylaarsdam; Stephanie Anover-Sombke; Anita L Rack; Janine Reichenbach; John C Carey; Qili Zhu; Annette F Jansson; Julia Barboza; Lena F Schimke; Mark F Leppert; Melissa M Getz; Reinhard A Seger; Harry R Hill; Bernd H Belohradsky; Troy R Torgerson; Hans D Ochs
Journal:  J Allergy Clin Immunol       Date:  2008-07       Impact factor: 10.793

6.  Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription.

Authors:  Annie E Powers; Jeffrey M Bender; Attila Kumánovics; Krow Ampofo; Nancy Augustine; Andrew T Pavia; Harry R Hill
Journal:  Pediatr Infect Dis J       Date:  2009-07       Impact factor: 2.129

Review 7.  Cytokine-mediated regulation of antimicrobial proteins.

Authors:  Jay K Kolls; Paul B McCray; Yvonne R Chan
Journal:  Nat Rev Immunol       Date:  2008-11       Impact factor: 53.106

8.  Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3.

Authors:  Cindy S Ma; Gary Y J Chew; Nicholas Simpson; Archana Priyadarshi; Melanie Wong; Bodo Grimbacher; David A Fulcher; Stuart G Tangye; Matthew C Cook
Journal:  J Exp Med       Date:  2008-07-07       Impact factor: 14.307

9.  Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome.

Authors:  Yoshiyuki Minegishi; Masako Saito; Masayuki Nagasawa; Hidetoshi Takada; Toshiro Hara; Shigeru Tsuchiya; Kazunaga Agematsu; Masafumi Yamada; Nobuaki Kawamura; Tadashi Ariga; Ikuya Tsuge; Hajime Karasuyama
Journal:  J Exp Med       Date:  2009-06-01       Impact factor: 14.307

10.  Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

Authors:  Ludovic de Beaucoudrey; Anne Puel; Orchidée Filipe-Santos; Aurélie Cobat; Pegah Ghandil; Maya Chrabieh; Jacqueline Feinberg; Horst von Bernuth; Arina Samarina; Lucile Jannière; Claire Fieschi; Jean-Louis Stéphan; Catherine Boileau; Stanislas Lyonnet; Guillaume Jondeau; Valérie Cormier-Daire; Martine Le Merrer; Cyrille Hoarau; Yvon Lebranchu; Olivier Lortholary; Marie-Olivia Chandesris; François Tron; Eleonora Gambineri; Lucia Bianchi; Carlos Rodriguez-Gallego; Simona E Zitnik; Julia Vasconcelos; Margarida Guedes; Artur Bonito Vitor; Laszlo Marodi; Helen Chapel; Brenda Reid; Chaim Roifman; David Nadal; Janine Reichenbach; Isabel Caragol; Ben-Zion Garty; Figen Dogu; Yildiz Camcioglu; Sanyie Gülle; Ozden Sanal; Alain Fischer; Laurent Abel; Birgitta Stockinger; Capucine Picard; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2008-07-07       Impact factor: 14.307
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  44 in total

Review 1.  Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome.

Authors:  Camila D Odio; Ki Lee Milligan; Katherine McGowan; Amanda K Rudman Spergel; Rachel Bishop; Lisa Boris; Amanda Urban; Pamela Welch; Theo Heller; David Kleiner; Mary Anne Jackson; Steven M Holland; Alexandra F Freeman
Journal:  J Allergy Clin Immunol       Date:  2015-08-17       Impact factor: 10.793

Review 2.  Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.

Authors:  Jing Wu; Ji Chen; Zhi-Qing Tian; Hao Zhang; Ruo-Lan Gong; Tong-Xin Chen; Li Hong
Journal:  J Clin Immunol       Date:  2017-02-14       Impact factor: 8.317

3.  Opposing roles of STAT1 and STAT3 in IL-21 function in CD4+ T cells.

Authors:  Chi-Keung Wan; Allison B Andraski; Rosanne Spolski; Peng Li; Majid Kazemian; Jangsuk Oh; Leigh Samsel; Phillip A Swanson; Dorian B McGavern; Elizabeth P Sampaio; Alexandra F Freeman; Joshua D Milner; Steven M Holland; Warren J Leonard
Journal:  Proc Natl Acad Sci U S A       Date:  2015-07-13       Impact factor: 11.205

4.  Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.

Authors:  Filippo Vairo; Cristina Netto; Alicia Dorneles; Suzana Mittelstadt; Matheus Wilke; Divair Doneda; Kristiane Michelin; Camila Blos Ribeiro; Amanda Quevedo; Tatiane Vieira; Tatiele Nalin; Sônia Lueska; Ida Vanessa D Schwartz
Journal:  JIMD Rep       Date:  2013-02-21

5.  Autosomal Dominant Hyper-IgE Syndrome Without Significantly Elevated IgE.

Authors:  Carsten S Larsen; Mette Christiansen; Trine H Mogensen
Journal:  J Clin Immunol       Date:  2019-08-29       Impact factor: 8.317

Review 6.  Development of a straight vertebrate body axis.

Authors:  Michel Bagnat; Ryan S Gray
Journal:  Development       Date:  2020-10-06       Impact factor: 6.868

7.  Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

Authors:  Alexandra F Freeman; Ellen D Renner; Carolyn Henderson; Anne Langenbeck; Kenneth N Olivier; Amy P Hsu; Beate Hagl; Annette Boos; Joie Davis; Beatriz E Marciano; Lisa Boris; Pamela Welch; Julie Sawalle-Belohradsky; Bernd H Belohradsky; King F Kwong; Steven M Holland
Journal:  J Clin Immunol       Date:  2013-04-13       Impact factor: 8.317

Review 8.  Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis.

Authors:  Dominique C Pichard; Alexandra F Freeman; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2015-09       Impact factor: 11.527

Review 9.  The Ying and Yang of STAT3 in Human Disease.

Authors:  Tiphanie P Vogel; Joshua D Milner; Megan A Cooper
Journal:  J Clin Immunol       Date:  2015-08-18       Impact factor: 8.317

Review 10.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317
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