Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
Picard C, Fieschi C, Altare F, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002;70:336-48.
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 1999;21:370-8.
Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: Abnormal IL- 12 regulation
Frucht DM, Holland M. Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: Abnormal IL- 12 regulation. J. Immunol 1996;157:411-6.
Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis
Ozbek N, Fieschi C, Yilmaz BT, et al. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis 2005; 40:e55-8.
Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor b1 deficiency
Caragol I, Raspall M, Fieschi C, et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor b1 deficiency. Clin Infect Dis 2003;37:302-6.
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency
Casanova JL, Fieschi C, Dupius S, et al. High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. Pediatrics 2001;107:e48.
Residual type 1 immunity in patient genetically deficient for interleukin 12 receptor b1 (IL-12Rb1): Evidence for an IL-12R b1-independent pathway f IL-12 responsiveness in human T cells
Verhagen CE, deBoer T, Smits HH, et al. Residual type 1 immunity in patient genetically deficient for interleukin 12 receptor b1 (IL-12Rb1): evidence for an IL-12R b1-independent pathway f IL-12 responsiveness in human T cells. J Exp Med 2000; 192:517-28.