Mendelian susceptibility to mycobacterial disease: Defects in the IL-12/IFNγ pathway;Susceptibilité mendélienne aux infections mycobactériennes: Défauts de l'axe IL-12/IFNγ

Presse Medicale

Volumn 35, Issue 5 II, 2006, Pages 879-886

  Fieschi, Claire ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 12;

ALLELE; ANTIGEN EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GEOGRAPHY; HUMAN; IMMUNE RESPONSE; MYCOBACTERIOSIS; REVIEW; SALMONELLA; SALMONELLOSIS; SIGNAL TRANSDUCTION; TUBERCULOSIS;

EID: 33646753208     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0755-4982(06)74707-8     Document Type: Article

References (27)

1. Reichenbach J, Rosenzweig S, Doffinger R, Dupuis S, Holland SM, Casanova JL. Mycobacterial diseases in primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2001; 1: 503-11.
2. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001; 27: 277-85.
3. Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F et al. Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics. 1996; 98: 774-8.
4. Levin M, Newport MJ, D'Souza S, Kalabalikis P, Brown IN, Lenicker HM et al. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet. 1995; 345: 79-83.
5. Emile JF, Patey N, Altare F, Lamhamedi S, Jouanguy E, Boman F et al. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J Pathol. 1997; 181: 25-30.
6. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996; 335: 1941-9.
7. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med. 1996; 335: 1956-61.
8. Pierre-Audigier C, Jouanguy E, Lamhamedi S, Altare F, Rauzier J, Vincent V et al. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin Infect Dis. 1997; 24: 982-4.
9. Jouanguy E, Dupuis S, Pallier A, Doffinger R, Fondaneche MC, Fieschi C et al. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest. 2000; 105: 1429-36.
10. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004; 364: 2113-21.
11. Dorman SE, Holland SM. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest. 1998; 101: 2364-9.
12. Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet. 2005; 37: 692-700. Epub 2005 May 29.
13. Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet. 2003; 33: 388-91.
14. Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondaneche MC, Tuerlinckx D, Blanche S et al. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest. 1997; 100: 2658-64.
15. Doffinger R, Jouanguy E, Dupuis S, Fondaneche MC, Stephan JE, Emile JF et al. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J Infect Dis. 2000; 181: 379-84.
16. Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet. 1999; 21: 370-8.
17. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science. 2001; 293: 300-3.
18. Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest. 1998; 102: 2035-40.
19. Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet. 2002; 70: 336-48.
20. Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F et al. Impairment of mycobacterial immunity in human interleukin12 receptor deficiency. Science. 1998; 280: 1432-5.
21. de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science. 1998; 280: 1435-8.
22. Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med. 2003; 197: 527-35.
23. Fieschi C, Bosticardo M, de Beaucoudrey L, Boisson-Dupuis S, Feinberg J, Santos OF et al. A novel form of complete IL-12/IL-23 receptor betal deficiency with cell surface-expressed nonfunctional receptors. Blood. 2004; 104: 2095-101.
24. Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A et al. Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis. 2001; 184: 231-6.
25. Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernandez M et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis. 2003; 37: 302-6.
26. Ozbek N, Fieschi C, Yilmaz BT, de Beaucoudrey L, Demirhan B, Feinberg J et al. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis. 2005; 40: 55-8.
27. Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med. 2005; 202: 1617-21.