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Missense mutation of the interleukin-12 receptor β1 chain– encoding gene is associated with impaired immunity againstMycobacterium avium complex infection by Tatsunori Sakai, Masao Matsuoka, Manabu Aoki, Kisato Nosaka, and Hiroaki Mitsuya Blood Volume 97(9):2688-2694 May 1, 2001 ©2001 by American Society of Hematology Expression of IL-12Rβ1 chains and IFN-γ receptors in various cells.(A-C) PBMCs from the patient and a healthy subject were stimulated with PHA, cultured for 3 days, washed, and incubated with a monoclonal antibody against IL-12Rβ1 chain (black) or a control... Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology Missense mutation in the IL-12Rβ1 chain–encoding gene identified in the patient and his pedigree.(A) A missense mutation identified in the patient: an amino acid substitution from arginine (CGG) to tryptophan (TGG) at position 213 (designated R213W). Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology Cell surface IL-12Rβ1 chain expression in HEKC293 cells transfected with wild-type and mutated IL-12Rβ1 genes.An expression vector carrying the wild-type (A) or mutated (B) IL-12Rβ1 chain– encoding gene was transfected into HEKC293 cells. Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology Presence of transcripts of the IL-12Rβ1 gene in the patient's cells.The presence of transcripts of the IL-12Rβ1 chain gene was examined with Northern blot analysis using a whole IL-12Rβ1 cDNA probe. Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology Western blot analysis of the production of IL-12Rβ1 chains.(A) Cell lysates from various cells were subjected to Western blot analysis using an antibody against the carboxy terminus of human IL-12Rβ1 protein (polyclonal), and the production of an IL-12Rβ1 c... Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology Expression of IL-12Rβ1 chains in PHA-PBMC from 2 persons carrying the Q214R substitution.PHA-PBMCs from 2 healthy Japanese persons who were homozygous for the Q214R substitution were examined for the presence of cell surface IL-12Rβ1 chains, as described in... Tatsunori Sakai et al. Blood 2001;97:2688-2694 ©2001 by American Society of Hematology
