IL12B

The IL12B gene on chromosome 5q31-33 encodes the p40 subunit of interleukin 12, an immunomodulatory cytokine.

Interleukin-12 has 2 chains, a 35-kD chain encoded by IL12A (MIM.161560) and a 40-kD chain encoded by IL12B.

Pathology

 germline mutations in

• disseminated infection with BCG and Salmonella enteritidis (MIM.209950) (9603732, 9854038)

 IL12B polymorphisms association with in

• asthma susceptibility (15322986)
• psoriasis susceptibility (17236132)

References

 Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB.A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.Am J Hum Genet. 2007 Feb;80(2):273-90. Epub 2006 Dec 21. PMID: 17236132 [PubMed - indexed for MEDLINE]

 Altare, F.; Durandy, A.; Lammas, D.; Emile, J.-F.; Lamhamedi, S.; Le Deist, F.; Drysdale, P.; Jouanguy, E.; Doffinger, R.; Bernaudin, F.; Jeppsson, O.; Gollob, J. A.; Meinl, E.; Segal, A. W.; Fischer, A; Kumararatne, D.; Casanova, J.-L. : Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280: 1432-1435, 1998. PubMed ID : 9603732

 Altare, F.; Lammas, D.; Revy, P.; Jouanguy, E.; Doffinger, R.; Lamhamedi, S.; Drysdale, P.; Scheel-Toellner, D.; Girdlestone, J.; Darbyshire, P.; Wadhwa, M.; Dockrell, H.; Salmon, M.; Fischer, A.; Durandy, A.; Casanova, J.-L.; Kumararatne, D. S. : Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J. Clin. Invest. 102: 2035-2040, 1998. PubMed ID : 9854038

 Picard, C.; Fieschi, C.; Altare, F.; Al-Jumaah, S.; Al-Hajjar, S.; Feinberg, J.; Dupuis, S.; Soudais, C.; Al-Mohsen, I. Z.; Genin, E.; Lammas, D.; Kumararatne, D. S.; and 12 others : Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am. J. Hum. Genet. 70: 336-348, 2002. PubMed ID : 11753820