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. 2017 Jul;140(1):291-294.e4.
doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4.

Detection of phosphoglucomutase-3 Deficiency by Lectin-Based Flow Cytometry

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Detection of phosphoglucomutase-3 Deficiency by Lectin-Based Flow Cytometry

Ryan J Carlson et al. J Allergy Clin Immunol. .
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Conflict of interest statement

Conflicts of Interest

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Reduced naïve CD4 N-glycan complexity identifies PGM3 deficiency from other congenital glycosylation and hyper-IgE disorders
(A) Intracellular UDP-HexNAc in PGM3 deficient (n = 6) and control PBMCs (n = 6). Unpaired t-test; **P<0.01. (B) Schematic of complex N-glycan formation with L-PHA binding site shown as a red dashed box. (C) L-PHA staining intensity of PBMCs before and after PNGAseF treatment (n = 5). Mann-Whitney test; **P<0.01. (D) L-PHA staining intensity of PBMCs from controls (n = 32), individuals with atopic dermatitis (AD, n = 22), DOCK8 deficiency (n = 4), STAT3 loss-of-function (STAT3 LOF, n = 5), PGM3 deficiency (n = 7), ALG13 deficiency (n = 1), PMM2 deficiency (n = 3), ALG12 deficiency (n = 1), NGLY1 deficiency (n = 9), and MOGS deficiency (n = 1). Representative (E) and combined (F, G) L-PHA staining of CD45RO+ and CD45RO CD4+ cells. Shaded area in (G) delineates the upper 99% confidence interval (CI) of PGM3 deficient cells and the closest lower 99% CI (STAT3 LOF). Mann-Whitney test; **P<0.01, ****P<0.0001.

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