Literature DB >> 24704721

CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.

Christina Gavino1, Anthony Cotter1, Daniel Lichtenstein1, Duncan Lejtenyi2, Claude Fortin3, Catherine Legault4, Najmeh Alirezaie5, Jacek Majewski5, Donald C Sheppard6, Marcel A Behr7, William D Foulkes8, Donald C Vinh1.   

Abstract

We demonstrate autosomal-recessive Caspase Recruitment Domain-containing protein 9 (CARD9) deficiency in a patient with relapsing C. albicans meningoencephalitis. We identified a novel, hypomorphic mutation with intact Th17 responses, but impaired GM-CSF responses. We report complete clinical remission with adjunctive GM-CSF therapy, suggesting that a CARD9/GM-CSF axis contributes to susceptibility to candidiasis.
© The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Keywords:  CARD9; Candida; GM-CSF; Th17; spontaneous central nervous system candidiasis

Mesh：

Substances：

Year:  2014        PMID： 24704721      PMCID： PMC4305130          DOI： 10.1093/cid/ciu215

Source DB:  PubMed          Journal:  Clin Infect Dis        ISSN： 1058-4838            Impact factor:   9.079


  8 in total

Review 1.  Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Authors:  Anne Puel; Sophie Cypowyj; László Maródi; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Curr Opin Allergy Clin Immunol       Date:  2012-12

2.  CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B.

Authors:  J Bertin; Y Guo; L Wang; S M Srinivasula; M D Jacobson; J L Poyet; S Merriam; M Q Du; M J Dyer; K E Robison; P S DiStefano; E S Alnemri
Journal:  J Biol Chem       Date:  2000-12-29       Impact factor: 5.157

3.  Challenging recommended oral and intravenous voriconazole doses for improved efficacy and safety: population pharmacokinetics-based analysis of adult patients with invasive fungal infections.

Authors:  Andres Pascual; Chantal Csajka; Thierry Buclin; Saskia Bolay; Jacques Bille; Thierry Calandra; Oscar Marchetti
Journal:  Clin Infect Dis       Date:  2012-05-18       Impact factor: 9.079

4.  Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

Authors:  Agata Drewniak; Roel P Gazendam; Anton T J Tool; Michel van Houdt; Machiel H Jansen; John L van Hamme; Ester M M van Leeuwen; Dirk Roos; Emmanuel Scalais; Carine de Beaufort; Hans Janssen; Timo K van den Berg; Taco W Kuijpers
Journal:  Blood       Date:  2013-01-18       Impact factor: 22.113

5.  A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

Authors:  Erik-Oliver Glocker; Andre Hennigs; Mohammad Nabavi; Alejandro A Schäffer; Cristina Woellner; Ulrich Salzer; Dietmar Pfeifer; Hendrik Veelken; Klaus Warnatz; Fariba Tahami; Sarah Jamal; Annabelle Manguiat; Nima Rezaei; Ali Akbar Amirzargar; Alessandro Plebani; Nicole Hannesschläger; Olaf Gross; Jürgen Ruland; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2009-10-29       Impact factor: 91.245

Review 6.  Mechanisms of microbial traversal of the blood-brain barrier.

Authors:  Kwang Sik Kim
Journal:  Nat Rev Microbiol       Date:  2008-07-07       Impact factor: 60.633

7.  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

8.  Deep dermatophytosis and inherited CARD9 deficiency.

Authors:  Fanny Lanternier; Saad Pathan; Laurent Abel; Olivier Lortholary; Jean-Laurent Casanova; Capucine Picard; Bodo Grimbacher; Anne Puel; Quentin B Vincent; Luyan Liu; Sophie Cypowyj; Carolina Prando; Mélanie Migaud; Lynda Taibi; Aomar Ammar-Khodja; Omar Boudghene Stambouli; Boumediene Guellil; Frederique Jacobs; Jean-Christophe Goffard; Kinda Schepers; Véronique Del Marmol; Lobna Boussofara; Mohamed Denguezli; Molka Larif; Hervé Bachelez; Laurence Michel; Gérard Lefranc; Rod Hay; Gregory Jouvion; Fabrice Chretien; Sylvie Fraitag; Marie-Elisabeth Bougnoux; Merad Boudia
Journal:  N Engl J Med       Date:  2013-10-16       Impact factor: 91.245
  8 in total
  54 in total

1.  Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.

Authors:  Zhifang Cao; Kara L Conway; Robert J Heath; Jason S Rush; Elizaveta S Leshchiner; Zaida G Ramirez-Ortiz; Natalia B Nedelsky; Hailiang Huang; Aylwin Ng; Agnès Gardet; Shih-Chin Cheng; Alykhan F Shamji; John D Rioux; Cisca Wijmenga; Mihai G Netea; Terry K Means; Mark J Daly; Ramnik J Xavier
Journal:  Immunity       Date:  2015-10-20       Impact factor: 31.745

2.  Microglia and Neutrophils to the Rescue.

Authors:  Mihaela Gadjeva
Journal:  Trends Immunol       Date:  2019-05-24       Impact factor: 16.687

3.  Prototheca zopfii Colitis in Inherited CARD9 Deficiency.

Authors:  Sinan Sari; Buket Dalgic; Atis Muehlenbachs; Marlene DeLeon-Carnes; Cynthia S Goldsmith; Ozgur Ekinci; Dhanpat Jain; M Kelly Keating; Silvia Vilarinho
Journal:  J Infect Dis       Date:  2018-07-02       Impact factor: 5.226

4.  Role of Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Regulating Neutrophil Antifungal Activity and the Oxidative Burst During Respiratory Fungal Challenge.

Authors:  Shinji Kasahara; Anupam Jhingran; Sourabh Dhingra; Anand Salem; Robert A Cramer; Tobias M Hohl
Journal:  J Infect Dis       Date:  2016-02-09       Impact factor: 5.226

5.  A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis.

Authors:  Anete S Grumach; Flavio de Queiroz-Telles; Mélanie Migaud; Fanny Lanternier; Nelson Rosario Filho; Sandra M U Palma; Rosemeire Navickas Constantino-Silva; Jean Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2015-06-05       Impact factor: 8.317

6.  Hematopoietic Stem Cell Transplantation in CARD9 Deficiency: Knight in Shining Armor?

Authors:  Isabelle Meyts
Journal:  J Clin Immunol       Date:  2019-06-19       Impact factor: 8.317

7.  Human invasive mycoses: immunogenetics on the rise.

Authors:  Michail S Lionakis; Steven M Holland
Journal:  J Infect Dis       Date:  2014-07-23       Impact factor: 5.226

8.  Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

Authors:  Carlos A Arango-Franco; Marcela Moncada-Vélez; Claudia Patricia Beltrán; Indira Berrío; Cristian Mogollón; Andrea Restrepo; Mónica Trujillo; Sara Daniela Osorio; Lorena Castro; Lina Vanessa Gómez; Ana María Muñoz; Verónica Molina; Delsy Yurledy Del Río Cobaleda; Ana Cristina Ruiz; Carlos Garcés; Juan Fernando Alzate; Felipe Cabarcas; Julio Cesar Orrego; Jean-Laurent Casanova; Jacinta Bustamante; Anne Puel; Andrés Augusto Arias; José Luis Franco
Journal:  J Clin Immunol       Date:  2018-09-28       Impact factor: 8.317

9.  CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.

Authors:  Xiaopo Wang; Hui Ding; Zhiming Chen; Xuesi Zeng; Jianfang Sun; Hao Chen; Meihua Fu
Journal:  Mycopathologia       Date:  2020-08-31       Impact factor: 2.574

Review 10.  Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

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