Literature DB >> 31385124

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.

Rodrigo Hoyos-Bachiloglu1, Silvanna Gallo1, Cecilia Vizcaya1, Pamela Zuñiga2, José R Valbuena3, Jean Laurent Casanova4,5,6,7,8, Jacinta Bustamante4,5,6,9, Arturo Borzutzky10,11.   

Abstract

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Year:  2019        PMID： 31385124      PMCID： PMC7159191          DOI： 10.1007/s10875-019-00678-5

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


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  11 in total

1.  Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  R Zemble; E Luning Prak; K McDonald; D McDonald-McGinn; E Zackai; K Sullivan
Journal:  Clin Immunol       Date:  2010-05-15       Impact factor: 3.969

Review 2.  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

Review 3.  Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Authors:  Ana Esteve-Solé; Ithaisa Sologuren; María Teresa Martínez-Saavedra; Àngela Deyà-Martínez; Carmen Oleaga-Quintas; Rubén Martinez-Barricarte; Andrea Martin-Nalda; Manel Juan; Jean-Laurent Casanova; Carlos Rodriguez-Gallego; Laia Alsina; Jacinta Bustamante
Journal:  Crit Rev Clin Lab Sci       Date:  2018-03-04       Impact factor: 6.250

4.  IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Authors:  Satoshi Okada; Janet G Markle; Elissa K Deenick; Federico Mele; Dina Averbuch; Macarena Lagos; Mohammed Alzahrani; Saleh Al-Muhsen; Andrea M Cooper; Luigi D Notarangelo; Stéphanie Boisson-Dupuis; Anne Puel; Federica Sallusto; Jacinta Bustamante; Stuart G Tangye; Rabih Halwani; Cindy S Ma; Natalie Wong; Claire Soudais; Lauren A Henderson; Hiyam Marzouqa; Jamal Shamma; Marcela Gonzalez; Rubén Martinez-Barricarte; Chizuru Okada; Danielle T Avery; Daniela Latorre; Caroline Deswarte; Fabienne Jabot-Hanin; Egidio Torrado; Jeffrey Fountain; Aziz Belkadi; Yuval Itan; Bertrand Boisson; Mélanie Migaud; Cecilia S Lindestam Arlehamn; Alessandro Sette; Sylvain Breton; James McCluskey; Jamie Rossjohn; Jean-Pierre de Villartay; Despina Moshous; Sophie Hambleton; Sylvain Latour; Peter D Arkwright; Capucine Picard; Olivier Lantz; Dan Engelhard; Masao Kobayashi; Laurent Abel; Jean-Laurent Casanova
Journal:  Science       Date:  2015-07-09       Impact factor: 47.728

5.  Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Authors:  Stéphanie Boisson-Dupuis; Noe Ramirez-Alejo; Zhi Li; Etienne Patin; Geetha Rao; Gaspard Kerner; Che Kang Lim; Dimitry N Krementsov; Nicholas Hernandez; Cindy S Ma; Qian Zhang; Janet Markle; Ruben Martinez-Barricarte; Kathryn Payne; Robert Fisch; Caroline Deswarte; Joshua Halpern; Matthieu Bouaziz; Jeanette Mulwa; Durga Sivanesan; Tomi Lazarov; Rodrigo Naves; Patricia Garcia; Yuval Itan; Bertrand Boisson; Alix Checchi; Fabienne Jabot-Hanin; Aurélie Cobat; Andrea Guennoun; Carolyn C Jackson; Sevgi Pekcan; Zafer Caliskaner; Jaime Inostroza; Beatriz Tavares Costa-Carvalho; Jose Antonio Tavares de Albuquerque; Humberto Garcia-Ortiz; Lorena Orozco; Tayfun Ozcelik; Ahmed Abid; Ismail Abderahmani Rhorfi; Hicham Souhi; Hicham Naji Amrani; Adil Zegmout; Frédéric Geissmann; Stephen W Michnick; Ingrid Muller-Fleckenstein; Bernhard Fleckenstein; Anne Puel; Michael J Ciancanelli; Nico Marr; Hassan Abolhassani; María Elvira Balcells; Antonio Condino-Neto; Alexis Strickler; Katia Abarca; Cory Teuscher; Hans D Ochs; Ismail Reisli; Esra H Sayar; Jamila El-Baghdadi; Jacinta Bustamante; Lennart Hammarström; Stuart G Tangye; Sandra Pellegrini; Lluis Quintana-Murci; Laurent Abel; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-12-21

6.  Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Authors:  Rubén Martínez-Barricarte; Janet G Markle; Cindy S Ma; Elissa K Deenick; Noé Ramírez-Alejo; Federico Mele; Daniela Latorre; Seyed Alireza Mahdaviani; Caner Aytekin; Davood Mansouri; Vanessa L Bryant; Fabienne Jabot-Hanin; Caroline Deswarte; Alejandro Nieto-Patlán; Laura Surace; Gaspard Kerner; Yuval Itan; Sandra Jovic; Danielle T Avery; Natalie Wong; Geetha Rao; Etienne Patin; Satoshi Okada; Benedetta Bigio; Bertrand Boisson; Franck Rapaport; Yoann Seeleuthner; Monika Schmidt; Aydan Ikinciogullari; Figen Dogu; Gonul Tanir; Payam Tabarsi; Mohammed Reza Bloursaz; Julia K Joseph; Avneet Heer; Xiao-Fei Kong; Mélanie Migaud; Tomi Lazarov; Frédéric Geissmann; Bernhard Fleckenstein; Cecilia Lindestam Arlehamn; Alessandro Sette; Anne Puel; Jean-François Emile; Esther van de Vosse; Lluis Quintana-Murci; James P Di Santo; Laurent Abel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Stuart G Tangye; Federica Sallusto; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-12-21

7.  Thymus transplantation for complete DiGeorge syndrome: European experience.

Authors:  E Graham Davies; Melissa Cheung; Kimberly Gilmour; Jesmeen Maimaris; Joe Curry; Anna Furmanski; Neil Sebire; Neil Halliday; Konstantinos Mengrelis; Stuart Adams; Jolanta Bernatoniene; Ronald Bremner; Michael Browning; Blythe Devlin; Hans Christian Erichsen; H Bobby Gaspar; Lizzie Hutchison; Winnie Ip; Marianne Ifversen; T Ronan Leahy; Elizabeth McCarthy; Despina Moshous; Kim Neuling; Malgorzata Pac; Alina Papadopol; Kathryn L Parsley; Luigi Poliani; Ida Ricciardelli; David M Sansom; Tiia Voor; Austen Worth; Tessa Crompton; M Louise Markert; Adrian J Thrasher
Journal:  J Allergy Clin Immunol       Date:  2017-04-08       Impact factor: 10.793

8.  Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Authors:  Tomasz Gambin; Zeynep C Akdemir; Bo Yuan; Shen Gu; Theodore Chiang; Claudia M B Carvalho; Chad Shaw; Shalini Jhangiani; Philip M Boone; Mohammad K Eldomery; Ender Karaca; Yavuz Bayram; Asbjørg Stray-Pedersen; Donna Muzny; Wu-Lin Charng; Vahid Bahrambeigi; John W Belmont; Eric Boerwinkle; Arthur L Beaudet; Richard A Gibbs; James R Lupski
Journal:  Nucleic Acids Res       Date:  2017-02-28       Impact factor: 16.971

9.  Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Authors:  Xiao-Fei Kong; Ruben Martinez-Barricarte; James Kennedy; Federico Mele; Tomi Lazarov; Elissa K Deenick; Cindy S Ma; Gaëlle Breton; Kimberly B Lucero; David Langlais; Aziz Bousfiha; Caner Aytekin; Janet Markle; Céline Trouillet; Fabienne Jabot-Hanin; Cecilia S Lindestam Arlehamn; Geetha Rao; Capucine Picard; Théo Lasseau; Daniela Latorre; Sophie Hambleton; Caroline Deswarte; Yuval Itan; Katia Abarca; Dewton Moraes-Vasconcelos; Fatima Ailal; Aydan Ikinciogullari; Figen Dogu; Ibtihal Benhsaien; Alessandro Sette; Laurent Abel; Stéphanie Boisson-Dupuis; Bernd Schröder; Michel C Nussenzweig; Kang Liu; Frédéric Geissmann; Stuart G Tangye; Philippe Gros; Federica Sallusto; Jacinta Bustamante; Jean-Laurent Casanova
Journal:  Nat Immunol       Date:  2018-08-20       Impact factor: 25.606

Review 10.  Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Authors:  E Graham Davies
Journal:  Front Immunol       Date:  2013-10-31       Impact factor: 7.561
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