Literature DB >> 26282795

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

Dominique C Pichard1, Alexandra F Freeman2, Edward W Cowen3.   

Abstract

Several primary immunodeficiencies (PIDs) have recently been described that confer an elevated risk of fungal infections and noninfectious cutaneous manifestations. In addition, immunologic advances have provided new insights into our understanding of the pathophysiology of fungal infections in established PIDs. We reviewed PIDs that present with an eczematous dermatitis in part I. In part II of this continuing medical education article we discuss updates on PIDs associated with fungal infections, their biologic basis in PIDs, and noninfectious cutaneous manifestations. Published by Elsevier Inc.

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Year:  2015        PMID: 26282795      PMCID: PMC4542057          DOI: 10.1016/j.jaad.2015.01.055

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  73 in total

1.  Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Authors:  Jennifer Cuellar-Rodriguez; Juan Gea-Banacloche; Alexandra F Freeman; Amy P Hsu; Christa S Zerbe; Katherine R Calvo; Jennifer Wilder; Roger Kurlander; Kenneth N Olivier; Steven M Holland; Dennis D Hickstein
Journal:  Blood       Date:  2011-08-03       Impact factor: 22.113

2.  B-cell lymphoma in a patient with WHIM syndrome.

Authors:  K M Chae; J O Ertle; M D Tharp
Journal:  J Am Acad Dermatol       Date:  2001-01       Impact factor: 11.527

3.  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

4.  Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.

Authors:  Lauren A Henderson; Francesco Frugoni; Gregory Hopkins; Helen de Boer; Sung-Yun Pai; Yu Nee Lee; Jolan E Walter; Melissa M Hazen; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-24       Impact factor: 10.793

5.  Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Authors:  Emily M Mace; Amy P Hsu; Linda Monaco-Shawver; George Makedonas; Joshua B Rosen; Lesia Dropulic; Jeffrey I Cohen; Eugene P Frenkel; John C Bagwell; John L Sullivan; Christine A Biron; Christine Spalding; Christa S Zerbe; Gulbu Uzel; Steven M Holland; Jordan S Orange
Journal:  Blood       Date:  2013-01-30       Impact factor: 22.113

6.  Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

Authors:  Yasuhiro Yamazaki; Masafumi Yamada; Toshinao Kawai; Tomohiro Morio; Masafumi Onodera; Masahiro Ueki; Nobuyuki Watanabe; Hidetoshi Takada; Shunichiro Takezaki; Natsuko Chida; Ichiro Kobayashi; Tadashi Ariga
Journal:  J Immunol       Date:  2014-10-06       Impact factor: 5.422

7.  Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Authors:  Donald C Vinh; Smita Y Patel; Gulbu Uzel; Victoria L Anderson; Alexandra F Freeman; Kenneth N Olivier; Christine Spalding; Stephen Hughes; Stefania Pittaluga; Mark Raffeld; Lynn R Sorbara; Houda Z Elloumi; Douglas B Kuhns; Maria L Turner; Edward W Cowen; Danielle Fink; Debra Long-Priel; Amy P Hsu; Li Ding; Michelle L Paulson; Adeline R Whitney; Elizabeth P Sampaio; David M Frucht; Frank R DeLeo; Steven M Holland
Journal:  Blood       Date:  2009-12-29       Impact factor: 22.113

8.  Familial atypical cold urticaria: description of a new hereditary disease.

Authors:  Chhavi Gandhi; Chris Healy; Alan A Wanderer; Hal M Hoffman
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

9.  Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.

Authors:  Glynis Frans; Leen Moens; Heidi Schaballie; Lien Van Eyck; Heleen Borgers; Margareta Wuyts; Doreen Dillaerts; Edith Vermeulen; James Dooley; Bodo Grimbacher; Andrew Cant; Dominique Declerck; Marleen Peumans; Marleen Renard; Kris De Boeck; Ilse Hoffman; Inge François; Adrian Liston; Frank Claessens; Xavier Bossuyt; Isabelle Meyts
Journal:  J Allergy Clin Immunol       Date:  2014-07-18       Impact factor: 10.793

10.  A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

Authors:  Jean-Pierre de Villartay; Annick Lim; Hamoud Al-Mousa; Sophie Dupont; Julie Déchanet-Merville; Edith Coumau-Gatbois; Marie-Lise Gougeon; Arnaud Lemainque; Céline Eidenschenk; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Françoise Le Deist
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

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  6 in total

1.  [In vivo study on the effects of intercellular adhesion operon of Staphylococcus epidermidis on the inflammation associated with bacteria-fungal mixed biofilm].

Authors:  Guojing Zhang; Zilin Wan; Xiaoyan Wang; Yunchao Huang; Youquan Zhou; Ying Chen; Yujie Lei; Limei Qiao
Journal:  Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi       Date:  2021-10-15

2.  Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.

Authors:  Sanem Eren Akarcan; Ezgi Ulusoy Severcan; Neslihan Edeer Karaca; Esra Isik; Guzide Aksu; Mélanie Migaud; Ferda Evin Gurkan; Elif Azarsiz; Anne Puel; Jean-Laurent Casanova; Necil Kutukculer
Journal:  Case Reports Immunol       Date:  2017-11-13

3.  Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Authors:  Long Guo; Nursel H Elcioglu; Shuji Mizumoto; Zheng Wang; Bilge Noyan; Hatice M Albayrak; Shuhei Yamada; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2017-03-23       Impact factor: 3.172

Review 4.  Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.

Authors:  Valentina Boz; Chiara Zanchi; Laura Levantino; Guglielmo Riccio; Alberto Tommasini
Journal:  World J Clin Pediatr       Date:  2022-03-09

Review 5.  Pathogenetic Impact of Bacterial-Fungal Interactions.

Authors:  Filomena Nogueira; Shirin Sharghi; Karl Kuchler; Thomas Lion
Journal:  Microorganisms       Date:  2019-10-16

6.  Importance of Candida Antigenic Factors: Structure-Driven Immunomodulation Properties of Synthetically Prepared Mannooligosaccharides in RAW264.7 Macrophages.

Authors:  Ema Paulovičová; Lucia Paulovičová; Pavol Farkaš; Alexander A Karelin; Yury E Tsvetkov; Vadim B Krylov; Nikolay E Nifantiev
Journal:  Front Cell Infect Microbiol       Date:  2019-11-08       Impact factor: 5.293

  6 in total

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