Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

doi:10.1086/338625

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Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

American journal of human genetics - 1 Feb 2002

Picard Capucine, Fieschi Claire, Altare Frédéric, Al-Jumaah Suliman, Al-Hajjar Sami, Feinberg Jacqueline, Dupuis Stéphanie, Soudais Claire, Al-Mohsen Ibrahim Zaid, Génin Emmanuelle, Lammas David, Kumararatne Dinakantha S, Leclerc Tony, Rafii Arash, Frayha Husn, Murugasu Belinda, Wah Lee Bee, Sinniah Raja, Loubser Michael, Okamoto Emi, Al-Ghonaium Abdulaziz, Tufenkeji Haysam, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cytokine disorder was a Pakistani child, who was homozygous for a large loss-of-function deletion...

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PMID: 11753820
DOI: 10.1086/338625
PMCID: PMC384913

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