Literature DB >> 29777412

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Brigitte Glanzmann1, Marlo Möller1, Marcela Moncada-Velez2,3, Jonny Peter4,5, Michael Urban1, Paul D van Helden1, Eileen G Hoal1, Nikola de Villiers1, Richard H Glashoff6, Rina Nortje6, Jacinta Bustamante2,7,8, Laurent Abel2,7,8, Jean-Laurent Casanova2,7,8,9,10, Stephanie Boisson-Dupuis2,7,8, Monika Esser6, Craig J Kinnear11.   

Abstract

Entities:  

Keywords:  IFN-γ immunity; IFNGR1; Mendelian susceptibility to mycobacterial disease; Mycobacterium other than tuberculosis; South Africa; Ttuberculosis

Mesh：

Substances：

Year:  2018        PMID： 29777412      PMCID： PMC6478027          DOI： 10.1007/s10875-018-0509-8

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


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  20 in total

1.  [Disseminated BCG disease revealing a partial deficiency in receptor 1 interferon gamma].

Authors:  J Antonietti; K Retornaz; A Bernasconi; R-J Laporte; P Minodier; J-C Bustamante; J-C Dubus
Journal:  Arch Pediatr       Date:  2015-08-03       Impact factor: 1.180

Review 2.  Mendelian susceptibility to mycobacterial infection in man.

Authors:  J L Casanova
Journal:  Swiss Med Wkly       Date:  2001-08-11       Impact factor: 2.193

3.  Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.

Authors:  E Jouanguy; F Altare; S Lamhamedi; P Revy; J F Emile; M Newport; M Levin; S Blanche; E Seboun; A Fischer; J L Casanova
Journal:  N Engl J Med       Date:  1996-12-26       Impact factor: 91.245

Review 4.  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

5.  Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

Authors:  Namik Ozbek; Claire Fieschi; Bafak T Yilmaz; Ludovic de Beaucoudrey; Beyhan Demirhan; Jacqueline Feinberg; Yunus Emre Bikmaz; Jean-Laurent Casanova
Journal:  Clin Infect Dis       Date:  2005-02-17       Impact factor: 9.079

6.  Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

Authors:  F Altare; A Ensser; A Breiman; J Reichenbach; J E Baghdadi; A Fischer; J F Emile; J L Gaillard; E Meinl; J L Casanova
Journal:  J Infect Dis       Date:  2001-06-14       Impact factor: 5.226

Review 7.  Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Authors:  Jacinta Bustamante; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

8.  Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Authors:  Susan E Dorman; Capucine Picard; David Lammas; Klaus Heyne; Jaap T van Dissel; Richard Baretto; Sergio D Rosenzweig; Melanie Newport; Michael Levin; Joachim Roesler; Dinakantha Kumararatne; Jean-Laurent Casanova; Steven M Holland
Journal:  Lancet       Date:  2004 Dec 11-17       Impact factor: 79.321

Review 9.  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

10.  World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects.

Authors: 
Journal:  JAMA       Date:  2013-11-27       Impact factor: 56.272
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  2 in total

Review 1.  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

2.  Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.

Authors:  Ansia van Coller; Brigitte Glanzmann; Helena Cornelissen; Marlo Möller; Craig Kinnear; Monika Esser; Richard Glashoff
Journal:  BMC Immunol       Date:  2021-09-13       Impact factor: 3.615
  2 in total

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