Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications

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Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications. / Fiesci, C; Dupuis, S; Catherinot, E; Feinberg, J; Bustamante, J; Breiman, A; Altare, F; Baretto, Richard; Le Deist, F; Koch, H; Richter, D; Brezina, M; Aksu, G; Wood, Philip; Al-Jumaah, S; Raspall, M; Da Silva Duarte, AJ; Tuerlinckx, D; Virelizier, JL; Fischer, A; Enright, A; Bernhoft, J; Cleary, AM; Vermylen, C; Rodriguez-Gallego, C; Davies, G.

In: The Journal of Experimental Medicine, Vol. 197, 17.02.2003, p. 527-35.

Research output: Contribution to journalArticle

Harvard

Fiesci, C, Dupuis, S, Catherinot, E, Feinberg, J, Bustamante, J, Breiman, A, Altare, F, Baretto, R, Le Deist, F, Koch, H, Richter, D, Brezina, M, Aksu, G, Wood, P, Al-Jumaah, S, Raspall, M, Da Silva Duarte, AJ, Tuerlinckx, D, Virelizier, JL, Fischer, A, Enright, A, Bernhoft, J, Cleary, AM, Vermylen, C, Rodriguez-Gallego, C & Davies, G 2003, 'Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications', The Journal of Experimental Medicine, vol. 197, pp. 527-35. https://doi.org/10.1084/jem.20021769

APA

Fiesci, C., Dupuis, S., Catherinot, E., Feinberg, J., Bustamante, J., Breiman, A., Altare, F., Baretto, R., Le Deist, F., Koch, H., Richter, D., Brezina, M., Aksu, G., Wood, P., Al-Jumaah, S., Raspall, M., Da Silva Duarte, AJ., Tuerlinckx, D., Virelizier, JL., ... Davies, G. (2003). Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications. The Journal of Experimental Medicine, 197, 527-35. https://doi.org/10.1084/jem.20021769

Vancouver

Author

Fiesci, C ; Dupuis, S ; Catherinot, E ; Feinberg, J ; Bustamante, J ; Breiman, A ; Altare, F ; Baretto, Richard ; Le Deist, F ; Koch, H ; Richter, D ; Brezina, M ; Aksu, G ; Wood, Philip ; Al-Jumaah, S ; Raspall, M ; Da Silva Duarte, AJ ; Tuerlinckx, D ; Virelizier, JL ; Fischer, A ; Enright, A ; Bernhoft, J ; Cleary, AM ; Vermylen, C ; Rodriguez-Gallego, C ; Davies, G. / Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications. In: The Journal of Experimental Medicine. 2003 ; Vol. 197. pp. 527-35.

Bibtex

@article{3715cbed085d4691a48a177feea5896a,
title = "Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications",
abstract = "The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guerin -BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rbeta1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.",
keywords = "interleukin 12 receptor, Mycobacteria, immunodeficiency, Salmonella, interferon gamma",
author = "C Fiesci and S Dupuis and E Catherinot and J Feinberg and J Bustamante and A Breiman and F Altare and Richard Baretto and {Le Deist}, F and H Koch and D Richter and M Brezina and G Aksu and Philip Wood and S Al-Jumaah and M Raspall and {Da Silva Duarte}, AJ and D Tuerlinckx and JL Virelizier and A Fischer and A Enright and J Bernhoft and AM Cleary and C Vermylen and C Rodriguez-Gallego and G Davies",
year = "2003",
month = feb,
day = "17",
doi = "10.1084/jem.20021769",
language = "English",
volume = "197",
pages = "527--35",
journal = "The Journal of Experimental Medicine",
issn = "0022-1007",
publisher = "Rockefeller University Press",

}

RIS

TY - JOUR

T1 - Low penetrance, broad resistance and favorable outcome of interlenkin 12 receptor betal deficiency: medical and immunological implications

AU - Fiesci, C

AU - Dupuis, S

AU - Catherinot, E

AU - Feinberg, J

AU - Bustamante, J

AU - Breiman, A

AU - Altare, F

AU - Baretto, Richard

AU - Le Deist, F

AU - Koch, H

AU - Richter, D

AU - Brezina, M

AU - Aksu, G

AU - Wood, Philip

AU - Al-Jumaah, S

AU - Raspall, M

AU - Da Silva Duarte, AJ

AU - Tuerlinckx, D

AU - Virelizier, JL

AU - Fischer, A

AU - Enright, A

AU - Bernhoft, J

AU - Cleary, AM

AU - Vermylen, C

AU - Rodriguez-Gallego, C

AU - Davies, G

PY - 2003/2/17

Y1 - 2003/2/17

N2 - The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guerin -BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rbeta1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.

AB - The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guerin -BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rbeta1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.

KW - interleukin 12 receptor

KW - Mycobacteria

KW - immunodeficiency

KW - Salmonella

KW - interferon gamma

UR - http://www.scopus.com/inward/record.url?scp=0037450808&partnerID=8YFLogxK

U2 - 10.1084/jem.20021769

DO - 10.1084/jem.20021769

M3 - Article

VL - 197

SP - 527

EP - 535

JO - The Journal of Experimental Medicine

JF - The Journal of Experimental Medicine

SN - 0022-1007

ER -