Presentation of interleukin-12/-23 receptor β1 deficiency with various clinical symptoms of salmonella infections

Journal of Clinical Immunology

Volumn 26, Issue 1, 2006, Pages 1-6

  Sanal, Ozden ^a   Turul, Tuba ^a   De Boer, Tijtske ^b   Van De Vosse, Esther ^b   Yalcin, Işik ^c   Tezcan, Ilhan ^a   Sun, Caǧman ^a   Memis, L ^d   Ottenhoff, Tom H M ^b   Ersoy, Fugen ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ISTANBUL UNIVERSITY   (Turkey)

^d GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

BCG; Interleukin 12 23 receptor 1 deficiency; Leukocytoclastic vasculitis; Mendelian susceptibility to mycobacterial disease; Salmonella infection

Indexed keywords

BCG VACCINE; CEFUROXIME; CEPHALOSPORIN DERIVATIVE; CIPROFLOXACIN; COTRIMOXAZOLE; GAMMA INTERFERON; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 23 RECEPTOR BETA 1; INTERLEUKIN RECEPTOR; SULTAMICILLIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BACTEREMIA; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; INOCULATION; LEUKOCYTOCLASTIC VASCULITIS; LYMPH NODE; MALE; PRIORITY JOURNAL; RECURRENT DISEASE; SALMONELLOSIS; TREATMENT OUTCOME; TUBERCULOSIS;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTORS, INTERLEUKIN; RECEPTORS, INTERLEUKIN-12; SALMONELLA INFECTIONS;

EID: 30944443852     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-006-7830-3     Document Type: Article

References (15)

1. Casanova JL, Abel L: Genetic dissection of immunity to mycobacteria: The human model. Annu Rev Immunol 20:581-620, 2002
2. Ottenhoff THM, Verreck FAW, Lichtenauer-Kaligis EGR, Hoeve MA, Sanal O, van Dissel JT: Genetics, cytokines and human infectious disease: Lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet 32:97-105, 2002
3. van de Vosse E, Hoeve MA, Ottenhoff TH: Human genetics of intracellular infectious diseases: Molecular and cellular immunity against mycobacteria and salmonellae. Lancet Infect Dis 4(12):739-749, 2004
4. Fieschi C, Casanova JL: The role of interleukin-12 in human infectious diseases: Only a faint signature. Eur J Immunol 33(6):1461-1464, 2003.
5. Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH: 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 33(1):59-69, 2003
6. Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, 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, Blutters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL: Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications. J Exp Med 197(4):527-535, 2003
7. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM: Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364(9451):2113-2121, 2004
8. Sanal O, Morgan G, Gocmen A, Novelli V, Klein N, Tezcan I, Ersoy F, Berkel AI, Yel L: Isolated cutaneous response to granulocyte-monocyte colony stimulating factor in fatal idiopathic disseminated Bacillus-Calmette-Guerin infection. Eur J Pediatr 159(3):149-152, 2000
9. Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernandez M, Figueras C, Bertran JM, Casanova JL, Espanol T: Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis 37(2):302-306, 2003
10. Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, Emile JF, Gaillard JL, Meinl E, Casanova JL: Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis 184(2):231-236, 2001
11. MacLennan C, Fieschi C, Lammas DA, Picard C, Dorman SE, Sanal O, MacLennan JM, Holland SM, Ottenhoff TH, Casanova JL, Kumararatne DS: Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 190(10): 1755-1757, 2004
12. Staretz-Haham O, Melamed R, Lifshitz M, Porat N, Fieschi C, Casanova JL, Levy J: Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection. Clin Infect Dis 37(1):137-140, 2003
13. Dorman SE, Holland SM: Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 11(4):321-333, 2000
14. Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JIMalech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H: Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79 (3): 155-169, 2000
15. Lun A, Roesler J, Renz H: Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin Chem 48(5):780-781, 2002