Problemi speciali
La candidiasi mucocutanea cronica
Chronic mucocutaneous candidiasis
Lucrezia Guadrini, Raffaele Badolato
Clinica Pediatrica dell’Universitŕ di Brescia, Spedali Civili, Brescia
Giugno 2013 - pagg. 372 -376
Abstract
The mucocutaneous candidiasis (CMC) is a chronic condition characterized by persistent
or recurrent Candida infections ranging from superficial infections such as oral thrush, candidal
onychomycosis and genital mucosa infections to systemic potentially life-threatening
infections. Although oral thrush is a common finding in normal infants, relapsing Candida
infections can constitute an alerting sign of primary immunodeficiencies. In severe combined
immunodeficiencies, chronic granulomatous disease, common variable immunodeficiency,
or hyper IgE syndromes (e.g., Job syndrome, DOCK8 syndrome) fungal infections
are usually associated with viral or bacterial infections. In other cases, CMC is associated
to autoimmune polyendocrinopathy and ectodermal dystrophy (an autosomal
recessive condition known as APECED). Finally, CMC patients may present selected susceptibility
to Candida without evidence of other accompanying manifestations. Heterozygous
mutations of STAT1 constitute the leading cause of isolated CMC, but CARD9 and
CLEC7A mutations have also been observed in patients with autosomal recessive CMC.
Treatment of CMC patients is based on daily prophylaxis with fluconazole or itraconazole,
but resistance to antifungal drugs has also been observed.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Contenuto riservato
Per leggere l'articolo completo è necessario effettuare il login.
Non sei ancora registrato? Registrati
Bibliografia
1. Buckley RH. The hyper-IgE syndrome. Clin
Rev Allergy Immunol 2001;20:139-54.
2. Grimbcher B, Holland SM Gallin JI, et al.
Hyper IgE syndrome with recurrent infections-
an autosomal dominant multisystem disorder.
N Engl J Med 1999;340:692-702.
3. Seger RA. Modern management of chronic
granulomatous disease. Br J Haematol 2008;
140:255-66.
4. Belmont JW, Puck JM. T cell and combined
immunodeficiency syndromes. The metabolic
and molecular bases of inherited disease. 8 ed.
McGraw-Hill, 2001:4751-84.
5. Kim HT, Kim NH, Seol EY, et al. A Case of
Nezelof’s syndrome. J Korean Pediatr Soc
1996;39:1620-6.
6. Roos D, Law SK. Hematologically important
mutations: leukocyte adhesion deficiency.
Blood Cells Mol Dis 2001;27:1000.
7. Al Rushood M, McCusker C, Mazer B, et al.
Autosomal dominant cases of Chronic Mucocutaneous
Candidiasis segregates with mutations
of Signal Transducer and Activator of
Transcription 1, But Not of Toll-Like Receptor
3. J Pediatr 2013;163:277-9.
8. Glocker EO, Hennigs A, Nabavi M, et al. A
homozygous CARD9 mutation in a family with
susceptibility to fungal infections. N Engl J
Med 2009;361:1727-35.
9. Husebye ES, Perheentupa J, Rautemaa R,
Kämpe O. Clinical manifestations and management
of patients with autoimmune polyendocrine
syndrome type I. J Intern Med 2009;
265:514-29.
10. Siikala E, Rautemaa R, Richardson M,
Saxen H, Bowyer P, Sanglard D. Persistent
Candida albicans colonization and molecular
mechanisms of azole resistance in autoimmune
polyendocrinopathy-candidiasis-ectodermal
dystrophy (APECED) patients. J Antimicrob
Chemother 2010;65:2505-13.
11. Zuccarello D, Salpietro DC, Gangemi S, et
al. Familial chronic nail candidiasis with
ICAM-1 deficiency: a new form of chronic mucocutaneous
candidiasis. J Med Genet 2002;
39:671-5.
12. Bettelli E, Carrier Y, Gao W, et al. Reciprocal
developmental pathways for the generation
of pathogenic effector TH17 and regulatory
T cells. Nature 2006;441:235-8.
13. Mayer FL, Wilson D, Hube B. Candida albicans
pathogenicity mechanisms. Virulence
2013;4:119-28.
14. Lilic D, Gravenor I. Immunology of chronic
mucocutaneous candidiasis. J Clin Pathol 2001;
54:81-3.
15. Kirkpatrick CH. Chronic mucocutaneous
candidiasis. Pediatr Infect Dis J 2001;20:197-
206.
16. Hermans PE, Ritts RE Jr. Chronic mucocutaneous
candidiasis. Its association with immunologic
and endocrine abnormalities. Minn
Med 1970;53:75-80.
17. Kauffman CA, Pappas PG, Sobel JD, Dismukes
WE. Essentials of Clinical Mycology.
Springer ed, 2011:175-7.
18. Puel A, Cypowyj S, Maródi L, Abel L, Picard
C, Casanova JL. Inborn errors of human
IL-17 immunity underlie chronic mucocutaneous
candidiasis. Curr Opin Allergy Clin Immunol
2012;12:616-22.
19. Hernández-Santos N, Gaffen SL. Th17 cells
in immunity to Candida albicans. Cell Host
Microbe 2012;11:425-35.
20. De Moraes-Vasconcelos D, Orii NM, Romano
CC, Iqueoka RY, Da S Duarte AJ. Characterization
of the cellular immune function
of patients with chronic mucocutaneous candidiasis.
Clin Exp Immunol 2001;123:247-53.
21. Rex JH, Walsh TJ, Sobel JD, et al. Practice
guidelines for the treatment of candidiasis. Infectious
Disease Society of America. Clin Infect
Dis 2000;30:662-78.
Corrispondenza: badolato@med.unibs.it
