Problemi speciali
Il bambino con infezione da micobatteri non tubercolari
Nontuberculous mycobacterial infections in children
Michela Caironi, Raffaele Badolato
Dipartimento di Scienze Cliniche e Sperimentali, Università di Brescia
Dicembre 2015 - pagg. 634 -638
Abstract
Localized mycobacterial infections of cervical lymph nodes are frequently observed in
normal children. These types of infections are sustained by environmental mycobacteria
and can be treated by surgical therapy. On the contrary, disseminated mycobacterial infections
are usually observed in subjects with primary immunodeficiencies such as chronic
granulomatous disease, common variable immunodeficiency or combined immunodeficiencies,
or in subjects with mendelian susceptibility to mycobacterial disease (MSMD).
When primary immunodeficiency is suspected, immunological and genetic work-up is
needed to drive the therapeutic options and make a prognosis.
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Bibliografia
1. Woods GL, Washington JA 2nd. Mycobacteria
other than Mycobacterium tuberculosis:
review of microbiological and clinical aspects.
Rev Infect Dis 1987;9(2):275-94.
2. Griffith DE, Aksamit T, Brown-Elliott BA, et
al; ATS Mycobacterial Diseases Subcommittee;
American Thoracic Society; Infectious Disease
Society of America. An official ATS/IDSA
statement: diagnosis, treatment, and prevention
of nontuberculous mycobacterial diseases.
Am J Respir Crit Care Med 2007;175
(4):367-416.
3. Epson E, Cassidy M, Marshall-Olson A,
Hedberg K, Winthrop KL. Patients with nontuberculous
mycobacteria: comparison of updated
and previous diagnostic criteria for lung
disease. Diagn Microbiol Infect Dis 2012;74
(1):98-100.
4. Dorman SE, Holland SM. Interferon- and
interleukin-12 pathway defects and human disease.
Cytokine Growth Factor Rev 2000;11
(4):321-33.
5. Casanova JL. Mendelian susceptibility to
mycobacterial infection in man. Swiss Med
Wkly 2001;131(31-32):445-54.
6. Lee WI, Huang JL, Yeh KW, et al. Immune
defects in active mycobacterial diseases in patients
with primary immunodeficiency diseases
(PIDs). J Formos Med Assoc 2011;110:
750-8.
7. Notarangelo LD. Primary immunodeficiencies.
J Allergy Clin Immunol 2010;125(2 Suppl
2):S182-94.
8. Notarangelo LD, Lanzi G, Peron S, Durandy
A. Defects of class-switch recombination. J Allergy
Clin Immunol 2006;117(4):883-96.
9. Su HC, Jing H, Zhang Q. DOCK8 deficiency.
Ann NY Acad Sci 2011;1246:26-33.
10. Sowerwine KJ, Holland SM, Freeman AF.
Hyper-IgE syndrome update. Ann NY Acad
Sci 2012;1250:25-32.
11. Pasic S, Lilic D, Pejnovic N, Vojvodic D, Simic
R, Abinun M. Disseminated Bacillus Calmette-
Guérin infection in a girl with hyperimmunoglobulin
E syndrome. Acta Paediatr
1998;87(6):702-4.
12. Al-Muhsen S, Casanova JL. The genetic
heterogeneity of mendelian susceptibility to
mycobacterial diseases. J Allergy Clin Immunol
2008;122(6):1043-51.
13. Rosenzweig SD, Holland SM. Defects in
the interferon-gamma and interleukin-12
pathways. Immunol Rev 2005;203:38-47.
14. Bustamante J, Picard C, Boisson-Dupuis
S, Abel L, Casanova JL. Genetic lessons learned
from X-linked Mendelian susceptibility to
mycobacterial diseases. Ann NY Acad Sci
2011;1246:92-101.
15. Hambleton S, Salem S, Bustamante J, et al.
IRF8 mutations and human dendritic-cell immunodeficiency.
N Engl J Med 2011;365(2):
127-38.
16. Jain A, Ma CA, Lopez-Granados E, et al. Specific
NEMO mutations impair CD40-mediated
c-Rel activation and B cell terminal differentiation.
J Clin Invest 2004;114(11):1593-602.
17. Bustamante J, Arias AA, Vogt G, et al.
Germline CYBB mutations that selectively affect
macrophages in kindreds with X-linked
predisposition to tuberculous mycobacterial
disease. Nat Immunol 2011;12(3):213-21.
18. Vinh DC, Patel SY, Uzel G, et al. Autosomal
dominant and sporadic monocytopenia with
susceptibility to mycobacteria, fungi, papillomaviruses,
and myelodysplasia. Blood 2010;
115(8):1519-29.
19. Hsu AP, Sampaio EP, Khan J, et al. Mutations
in GATA2 are associated with the autosomal
dominant and sporadic monocytopenia
and mycobacterial infection (MonoMAC) syndrome.
Blood 2011;118(10):2653-5.
20. Dotta L, Badolato R. Primary immunodeficiencies
appearing as combined lymphopenia,
neutropenia, and monocytopenia. Immunol
Lett 2014;161(2):222-5.
Corrispondenza: badolato@med.unibs.it