American Society of Hematology

Fig. 2.

$Fig. 2. Characterization of RAG1 mutations of the patient. / (A) Schematic representations of mutant RAG1 proteins. Arrows indicate the parental mutations. (B) Steady-state levels of the mutant and wild-type RAG-1 proteins in transfected 293T cells. Protein from transfected 293T cells was detected by immunoblotting with polyclonal anti-RAG1 antibodies. (C) The paternal mutation was not detected in CD4+ and CD8+ T cells from the patient. Cells were purified by positive magnetic immunoselection by using anti-CD4, anti-CD8, anti-CD19, and anti-CD56 microbeads, and direct sequencing was performed on the PCR products by using genomic DNAs isolated from the fractionated PBMCs. An asterisk indicates the position of the paternal mutation.$

Characterization of RAG1 mutations of the patient.

(A) Schematic representations of mutant RAG1 proteins. Arrows indicate the parental mutations. (B) Steady-state levels of the mutant and wild-type RAG-1 proteins in transfected 293T cells. Protein from transfected 293T cells was detected by immunoblotting with polyclonal anti-RAG1 antibodies. (C) The paternal mutation was not detected in CD4⁺ and CD8⁺ T cells from the patient. Cells were purified by positive magnetic immunoselection by using anti-CD4, anti-CD8, anti-CD19, and anti-CD56 microbeads, and direct sequencing was performed on the PCR products by using genomic DNAs isolated from the fractionated PBMCs. An asterisk indicates the position of the paternal mutation.

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