Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families

International Journal of Infectious Diseases

Volumn 14, Issue SUPPL. 3, 2010, Pages

  Pedraza Sánchez, Sigifredo ^a   Herrera Barrios, Maria Teresa ^b   Aldana Vergara, Ruth ^c   Neumann Ordoñez, Milagros ^c   González Hernández, Yolanda ^b   Sada Díaz, Eduardo ^b   de Beaucoudrey, Ludovic ^d   Casanova, Jean Laurent ^d,e,f   Torres Rojas, Martha ^b  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^b National Institute for Respiratory Diseases   (Mexico)

^c Federico Gómez Children's Hospital of México   (Mexico)

^d IMAGINE INSTITUTE   (France)

^e ROCKEFELLER UNIVERSITY   (United States)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Candida albicans; Interferon gamma; Interleukin 12 receptor; Mycobacteria; Primary immunodeficiency

Indexed keywords

AMIKACIN; AMPHOTERICIN B; BCG VACCINE; CIPROFLOXACIN; CLARITHROMYCIN; ETHAMBUTOL; FLUCONAZOLE; INTERLEUKIN 12; INTERLEUKIN 12 RECEPTOR BETA1; INTERLEUKIN 23 RECEPTOR; INTERLEUKIN 23 RECEPTOR BETA 1; ISONIAZID; RECOMBINANT GAMMA INTERFERON; RIFAMPICIN; UNCLASSIFIED DRUG;

ARTICLE; BACILLE CALMETTE GUERIN INFECTION; BCG VACCINATION; CANDIDA ALBICANS; CANDIDIASIS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ENTEROPATHY; FAMILY; FEMALE; GENE EXPRESSION; GENE SEQUENCE; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNE RESPONSE; INFANT; LUNG INFECTION; LYMPH NODE BIOPSY; LYMPHADENITIS; LYMPHADENOPATHY; MALE; MEXICO; MYCOBACTERIOSIS; MYCOBACTERIUM BOVIS; PLEURA EFFUSION; POINT MUTATION; REMISSION; SERODIAGNOSIS; SIBLING; THORAX RADIOGRAPHY; TUBERCULOUS LYMPHADENITIS;

ADOLESCENT; BASE SEQUENCE; BCG VACCINE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INTERFERON-GAMMA; MALE; MEXICO; MYCOBACTERIUM BOVIS; PEDIGREE; POINT MUTATION; RECEPTORS, INTERLEUKIN-12; TUBERCULOSIS;

EID: 77957366858     PISSN: 12019712     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijid.2009.11.005     Document Type: Article

References (28)

1. Casanova J.L., Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 2002, 20:581-620.
2. Filipe-Santos O., Bustamante J., Chapgier A., Vogt G., de Beaucoudrey L., Feinberg J., et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 2006, 18:347-361.
3. de Jong R., Altare F., Haagen I.A., Elferink D.G., Boer T., van Breda Vriesman P.J., et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 1998, 280:1435-1438.
4. Elloumi-Zghal H., Barbouche M.R., Chemli J., Bejaoui M., Harbi A., Snoussi N., et al. Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille Calmette-Guerin infection. J Infect Dis 2002, 185:1468-1475.
5. Vogt G., Bustamante J., Chapgier A., Feinberg J., Boisson Dupuis S., Picard C., et al. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med 2008, 205:1729-1737.
6. 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.
7. van Embden J.D., Cave M.D., Crawford J.T., Dale J.W., Eisenach K.D., Gicquel B., et al. Strain identification of Mycobacterium tuberculosis by DNA fingerprinting: recommendations for a standardized methodology. J Clin Microbiol 1993, 31:406-409.
8. van Soolingen D., Hermans P.W., de Haas P.E., Soll D.R., van Embden J.D. Occurrence and stability of insertion sequences in Mycobacterium tuberculosis complex strains: evaluation of an insertion sequence-dependent DNA polymorphism as a tool in the epidemiology of tuberculosis. J Clin Microbiol 1991, 29:2578-2586.
9. Altare F., Durandy A., Lammas D., Emile J.F., Lamhamedi S., Le Deist F., et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998, 280:1432-1435.
10. Feinberg J., Fieschi C., Doffinger R., Feinberg M., Leclerc T., Boisson-Dupuis S., et al. Bacillus Calmette-Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol 2004, 34:3276-3284.
11. Caragol I., Raspall M., Fieschi C., Feinberg J., Larrosa M.N., Hernandez M., et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 2003, 37:302-306.
12. Casanova J.L., Blanche S., Emile J.F., Jouanguy E., Lamhamedi S., Altare F., et al. Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics 1996, 98:774-778.
13. Fieschi C., Casanova J.L. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 2003, 33:1461-1464.
14. Fieschi C., Dupuis S., Catherinot E., Feinberg J., Bustamante J., Breiman A., et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003, 197:527-535.
15. Lichtenauer-Kaligis E.G., de Boer T., Verreck F.A., van Voorden S., Hoeve M.A., van de Vosse E., et al. Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol 2003, 33:59-69.
16. Ulrichs T., Fieschi C., Nevicka E., Hahn H., Brezina M., Kaufmann S.H., et al. Variable outcome of experimental interferon-gamma therapy of disseminated bacillus Calmette-Guerin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children. Eur J Pediatr 2005, 164:166-172.
17. Aksu G., Tirpan C., Cavusoglu C., Soydan S., Altare F., Casanova J.L., et al. Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency. Pediatr Infect Dis J 2001, 20:551-553.
18. Sakai T., Matsuoka M., Aoki M., Nosaka K., Mitsuya H. Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection. Blood 2001, 97:2688-2694.
19. Altare F., Ensser A., Breiman A., Reichenbach J., Baghdadi J.E., Fischer A., et al. Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 2001, 184:231-236.
20. Ozbek N., Fieschi C., Yilmaz B.T., 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:e55-e58.
21. Cleary A.M., Tu W., Enright A., Giffon T., Dewaal-Malefyt R., Gutierrez K., et al. Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency. J Immunol 2003, 170:597-603.
22. Ozen M., Ceyhan M., Sanal O., Bayraktar M., Mesci L. Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency. J Trop Pediatr 2006, 52:296-298.
23. Sanal O., Turul T., De Boer T., Van de Vosse E., Yalcin I., Tezcan I., et al. Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections. J Clin Immunol 2006, 26:1-6.
24. 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, 70:336-348.
25. Kutukculer N., Genel F., Aksu G., Karapinar B., Ozturk C., Cavusoglu C., et al. Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency. J Pediatr 2006, 148:407-409.
26. Sanal O., Turkkani G., Gumruk F., Yel L., Secmeer G., Tezcan I., et al. A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis. Pediatr Infect Dis J 2007, 26:366-368.
27. Moraes-Vasconcelos D., Grumach A.S., Yamaguti A., Andrade M.E., Fieschi C., Beaucoudrey L., et al. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis 2005, 41:e31-e37.
28. Tanir G., Dogu F., Tuygun N., Ikinciogullari A., Aytekin C., Aydemir C., et al. Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features. Eur J Pediatr 2006, 165:415-417.