Literature DB >> 22696093

XDR TB in a case of IL12Rβ1 deficiency: a case report of Mendelian Susceptibility to Mycobacterial Disease from India.

Rashid H Merchant1, Javed Ahmed, Noor Ahmad.   

Abstract

Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a relatively new term that describes a spectrum of inherited defects in the IL-12/23 and IFN- γ pathways that result in a selective predisposition to disease caused by poorly pathogenic mycobacteria. In contrast to previous reports of patients infected with environmental mycobacteria and BCG, this manuscript elucidates the clinical course and diagnosis of MSMD in a child harboring extensively drug resistant (XDR) Mycobacterium tuberculosis.

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Year:  2012        PMID: 22696093     DOI: 10.1007/s12098-012-0806-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  8 in total

Review 1.  Mendelian susceptibility to mycobacterial disease.

Authors:  L E Cottle
Journal:  Clin Genet       Date:  2011-01       Impact factor: 4.438

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.  Irrational use of anti-tubercular therapy.

Authors:  Pankaj Garg
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

4.  Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.

Authors:  F Altare; A Durandy; D Lammas; J F Emile; S Lamhamedi; F Le Deist; P Drysdale; E Jouanguy; R Döffinger; F Bernaudin; O Jeppsson; J A Gollob; E Meinl; A W Segal; A Fischer; D Kumararatne; J L Casanova
Journal:  Science       Date:  1998-05-29       Impact factor: 47.728

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

Review 6.  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

7.  Tuberculosis - persistent threat to human health.

Authors:  Y K Amdekar
Journal:  Indian J Pediatr       Date:  2005-04       Impact factor: 1.967

8.  Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Authors:  Claire Fieschi; Stéphanie Dupuis; Emilie Catherinot; Jacqueline Feinberg; Jacinta Bustamante; Adrien Breiman; Frédéric Altare; Richard Baretto; Françoise Le Deist; Samer Kayal; Hartmut Koch; Darko Richter; Martin Brezina; Guzide Aksu; Phil Wood; Suliman Al-Jumaah; Miquel Raspall; Alberto José Da Silva Duarte; David Tuerlinckx; Jean-Louis Virelizier; Alain Fischer; Andrea Enright; Jutta Bernhöft; Aileen M Cleary; Christiane Vermylen; Carlos Rodriguez-Gallego; Graham Davies; Renate Blütters-Sawatzki; Claire-Anne Siegrist; Mohammad S Ehlayel; Vas Novelli; Walther H Haas; Jacob Levy; Joachim Freihorst; Sami Al-Hajjar; David Nadal; Dewton De Moraes Vasconcelos; Olle Jeppsson; Necil Kutukculer; Klara Frecerova; Isabel Caragol; David Lammas; Dinakantha S Kumararatne; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2003-02-17       Impact factor: 14.307

  8 in total
  2 in total

Review 1.  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

2.  Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.

Authors:  Prasad D Taur; Vijaya Gowri; Ambreen Abdulwahab Pandrowala; Vaishnavi V Iyengar; Akshaya Chougule; Zainab Golwala; Shraddha Chandak; Reepa Agarwal; Purva Keni; Neha Dighe; Minnie Bodhanwala; Shakuntala Prabhu; Biju George; N A Fouzia; Eunice Sindhuvi Edison; Arun Kumar Arunachalam; Manisha Rajan Madkaikar; Aparna Dhondi Dalvi; Reetika Malik Yadav; Umair Ahmed Bargir; Priyanka Madhav Kambli; Amit Rawat; Jhumki Das; Vibhu Joshi; Rakesh Kumar Pilania; Ankur Kumar Jindal; Sunil Bhat; Sagar Bhattad; Jeeson Unni; Nita Radhakrishnan; Revathi Raj; Ramya Uppuluri; Shivani Patel; Harsha Prasada Lashkari; Amita Aggarwal; Manas Kalra; Zarir Udwadia; Vibha Sanjay Bafna; Tarun Kanade; Anne Puel; Jacinta Bustamante; Jean Laurent Casanova; Mukesh M Desai
Journal:  Front Immunol       Date:  2021-02-25       Impact factor: 7.561

  2 in total

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