Figure 1
Figure 1. Kindlin-3 is lost in LAD-III patients, whereas CDGI expression is restricted to primary leukocytes of a subset of LAD-III patients. (A) Multiple alignment of genomic DNA sequence (chr11:63735681-63735711, National Center for Biotechnology Information Build 36) surrounding the putative stop codon mutation within the Kindlin-3 gene. (B) Lysates of whole blood cells either derived from a control donor or from LAD-III-B patient were immunoblotted with anti–Kindlin-3 Ab, anti-CDGI mAb, or anti–total ERK2 antibody as a control. (C) Lysates of resting T cells from control, LAD-III-A, or LAD-III-C patients were immunoblotted with anti–Kindlin-3 antibody, anti-CDGI mAb (Mono), anti-CDGI antibody (Poly), and anti–total ERK2 Ab. (Di) Lysates of effector T cells derived from control and LAD-III-A patients after the indicated number of days of in vitro expansion were each immunoblotted with anti–Kindlin-3, anti-CDGI mAb, anti-CDGI polyclonal Ab, and anti-actin antibody as a control. (Dii) Lysates of control and LAD-III-A effector T cells derived after 8 days of expansion in vitro were immunoblotted with anti–Kindlin-3 Ab, anti-CDGI mAb, and anti–total ERK2 Ab, as in panel B.

Kindlin-3 is lost in LAD-III patients, whereas CDGIexpression is restricted to primary leukocytes of a subset of LAD-III patients. (A) Multiple alignment of genomic DNA sequence (chr11:63735681-63735711, National Center for Biotechnology Information Build 36) surrounding the putative stop codon mutation within the Kindlin-3 gene. (B) Lysates of whole blood cells either derived from a control donor or from LAD-III-B patient were immunoblotted with anti–Kindlin-3 Ab, anti-CDGI mAb, or anti–total ERK2 antibody as a control. (C) Lysates of resting T cells from control, LAD-III-A, or LAD-III-C patients were immunoblotted with anti–Kindlin-3 antibody, anti-CDGI mAb (Mono), anti-CDGI antibody (Poly), and anti–total ERK2 Ab. (Di) Lysates of effector T cells derived from control and LAD-III-A patients after the indicated number of days of in vitro expansion were each immunoblotted with anti–Kindlin-3, anti-CDGI mAb, anti-CDGI polyclonal Ab, and anti-actin antibody as a control. (Dii) Lysates of control and LAD-III-A effector T cells derived after 8 days of expansion in vitro were immunoblotted with anti–Kindlin-3 Ab, anti-CDGI mAb, and anti–total ERK2 Ab, as in panel B.

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