Human inborn errors of immunity underlying superficial or invasive candidiasis

被引:64
作者
Puel, Anne [1 ,2 ,3 ]
机构
[1] Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,U1163, F-75015 Paris, France
[2] Paris Univ, Imagine Inst, F-75015 Paris, France
[3] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA
关键词
CHRONIC MUCOCUTANEOUS CANDIDIASIS; GAIN-OF-FUNCTION; CENTRAL-NERVOUS-SYSTEM; MUTATIONS IMPAIR IL-17; GROWTH-FACTOR-BETA; HYPER IGE SYNDROME; FUNGAL-INFECTIONS; CLINICAL-FEATURES; CARD9; DEFICIENCY; ANTIFUNGAL IMMUNITY;
D O I
10.1007/s00439-020-02141-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Candida species, including C. albicans in particular, can cause superficial or invasive disease, often in patients with known acquired immunodeficiencies or iatrogenic conditions. The molecular and cellular basis of these infections in patients with such risk factors remained largely elusive, until the study of inborn errors of immunity clarified the basis of the corresponding inherited and "idiopathic" infections. Superficial candidiasis, also known as chronic mucocutaneous candidiasis (CMC), can be caused by inborn errors of IL-17 immunity. Invasive candidiasis can be caused by inborn errors of CARD9 immunity. In this chapter, we review both groups of inborn errors of immunity, and discuss the contribution of these studies to the deciphering of the critical mechanisms of anti-Candida immunity in patients with other conditions.
引用
收藏
页码:1011 / 1022
页数:12
相关论文
共 141 条
  • [1] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    Aaltonen, J
    Bjorses, P
    Perheentupa, J
    HorelliKuitunen, N
    Palotie, A
    Peltonen, L
    Lee, YS
    Francis, F
    Hennig, S
    Thiel, C
    Lehrach, H
    Yaspo, ML
    [J]. NATURE GENETICS, 1997, 17 (04) : 399 - 403
  • [2] Epidemiology and predictors of mortality in cases of Candida bloodstream infection:: Results from population-based surveillance, Barcelona, Spain, from 2002 to 2003
    Almirante, B
    Rodríguez, D
    Park, BJ
    Cuenca-Estrella, M
    Planes, AM
    Almela, M
    Mensa, J
    Sanchez, F
    Ayats, J
    Gimenez, M
    Saballs, P
    Fridkin, SK
    Morgan, J
    Rodriguez-Tudela, JL
    Warnock, DW
    Pahissa, A
    [J]. JOURNAL OF CLINICAL MICROBIOLOGY, 2005, 43 (04) : 1829 - 1835
  • [3] Fungal infections in primary immunodeficiencies
    Antachopoulos, Charalampos
    Walsh, Thomas J.
    Roilides, Emmanuel
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (11) : 1099 - 1117
  • [5] Candidemia in the elderly: What does it change?
    Barchiesi, Francesco
    Orsetti, Elena
    Mazzanti, Sara
    Trave, Francesca
    Salvi, Aldo
    Nitti, Cinzia
    Manso, Esther
    [J]. PLOS ONE, 2017, 12 (05):
  • [6] Invasive candidiasis in low birth weight preterm infants: risk factors, clinical course and outcome in a prospective multicenter study of cases and their matched controls
    Barton, Michelle
    O'Brien, Karel
    Robinson, Joan L.
    Davies, Dele H.
    Simpson, Kim
    Asztalos, Elizabeth
    Langley, Joanne M.
    Le Saux, Nicole
    Sauve, Reg
    Synnes, Anne
    Tan, Ben
    de Repentigny, Louis
    Rubin, Earl
    Hui, Chuck
    Kovacs, Lajos
    Richardson, Susan E.
    [J]. BMC INFECTIOUS DISEASES, 2014, 14
  • [7] A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
    Beziat, Vivien
    Li, Juan
    Lin, Jian-Xin
    Ma, Cindy S.
    Li, Peng
    Bousfiha, Aziz
    Pellier, Isabelle
    Zoghi, Samaneh
    Baris, Safa
    Keles, Sevgi
    Gray, Paul
    Du, Ning
    Wang, Yi
    Zerbib, Yoann
    Levy, Romain
    Leclercq, Thibaut
    About, Fredegonde
    Lim, Ai Ing
    Rao, Geetha
    Payne, Kathryn
    Pelham, Simon J.
    Avery, Danielle T.
    Deenick, Elissa K.
    Pillay, Bethany
    Chou, Janet
    Guery, Romain
    Belkadi, Aziz
    Guerin, Antoine
    Migaud, Melanie
    Rattina, Vimel
    Ailal, Fatima
    Benhsaien, Ibtihal
    Bouaziz, Matthieu
    Habib, Tanwir
    Chaussabel, Damien
    Marr, Nico
    El-Benna, Jamel
    Grimbacher, Bodo
    Wargon, Orli
    Bustamante, Jacinta
    Boisson, Bertrand
    Mueller-Fleckenstein, Ingrid
    Fleckenstein, Bernhard
    Chandesris, Marie-Olivia
    Titeux, Matthias
    Fraitag, Sylvie
    Alyanakian, Marie-Alexandra
    Leruez-Ville, Marianne
    Picard, Capucine
    Meyts, Isabelle
    [J]. SCIENCE IMMUNOLOGY, 2018, 3 (24)
  • [8] An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis
    Boisson, Bertrand
    Wang, Chenhui
    Pedergnana, Vincent
    Wu, Ling
    Cypowyj, Sophie
    Rybojad, Michel
    Belkadi, Aziz
    Picard, Capucine
    Abel, Laurent
    Fieschi, Claire
    Puel, Anne
    Li, Xiaoxia
    Casanova, Jean-Laurent
    [J]. IMMUNITY, 2013, 39 (04) : 676 - 686
  • [9] Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
    Boisson-Dupuis, Stephanie
    Kong, Xiao-Fei
    Okada, Satoshi
    Cypowyj, Sophie
    Puel, Anne
    Abel, Laurent
    Casanova, Jean-Laurent
    [J]. CURRENT OPINION IN IMMUNOLOGY, 2012, 24 (04) : 364 - 378
  • [10] Bosch B, 2016, NEW ENGL J MED, V374, P794, DOI 10.1056/NEJMc1514201