Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

Journal of Allergy and Clinical Immunology

Volumn 140, Issue 1, 2017, Pages 291-294.e4

  Carlson, Ryan J ^a   Bond, Michelle R ^b   Hutchins, Shermaine ^a   Brown, Yishai ^a   Wolfe, Lynne A ^c   Lam, Christina ^c,d,e   Nelson, Celeste ^a   DiMaggio, Thomas ^a   Jones, Nina ^f   Rosenzweig, Sergio D ^a   Stone, Kelly D ^a   Freeman, Alexandra F ^a   Holland, Steven M ^a   Hanover, John A ^b   Milner, Joshua D ^a   Lyons, Jonathan J ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e SEATTLE CHILDREN S HOSPITAL   (United States)

^f FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1,6 MANNOSYLTRANSFERASE; CD4 ANTIGEN; CD45RO ANTIGEN; ENZYME; IMMUNOGLOBULIN E; LECTIN; MANNOSE; PHOSPHOGLUCOMUTASE; PHOSPHOGLUCOMUTASE 3; PHOSPHOMANNOMUTASE 2; STAT3 PROTEIN; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE; BIOLOGICAL MARKER; PGM3 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; ENZYME DEFICIENCY; FLOW CYTOMETRY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; PERIPHERAL BLOOD MONONUCLEAR CELL; PHOSPHOGLUCOMUTASE 3 DEFICIENCY; PRIORITY JOURNAL; BLOOD; DEFICIENCY; DISEASE PREDISPOSITION; GENETIC ASSOCIATION STUDY; GENETICS; GLYCOSYLATION; IMMUNOLOGY; METABOLISM; MUTATION; PHENOTYPE; PROCEDURES;

BIOMARKERS; DISEASE SUSCEPTIBILITY; FLOW CYTOMETRY; GENETIC ASSOCIATION STUDIES; GLYCOSYLATION; HUMANS; IMMUNOGLOBULIN E; MUTATION; PHENOTYPE; PHOSPHOGLUCOMUTASE;

EID: 85011024593     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.12.951     Document Type: Article

References (14)

1. Zhang, Y., Yu, X., Ichikawa, M., Lyons, J.J., Datta, S., Lamborn, I.T., et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol 133 (2014), 1400–1409 1409.e1-5.
2. Stray-Pedersen, A., Backe, P.H., Sorte, H.S., Morkrid, L., Chokshi, N.Y., Erichsen, H.C., et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet 95 (2014), 96–107.
3. Sassi, A., Lazaroski, S., Wu, G., Haslam, S.M., Fliegauf, M., Mellouli, F., et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol 133 (2014), 1410–1419 1409.e1-13.
4. Bernth-Jensen, J.M., Holm, M., Christiansen, M., Neonatal-onset T(−)B(−)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol 137 (2016), 321–324.
5. Ben-Ali, M., Ben-Mustapha, I., Mekki, N., Mellouli, F., Khemiri, M., Bejaoui, M., et al. A founder mutation in PGM3 is responsible for a severe form of hyper-IgE like syndrome in Tunisian patients. J Clin Immunol 36 (2016), 235–334.
6. Demetriou, M., Granovsky, M., Quaggin, S., Dennis, J.W., Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation. Nature 409 (2001), 733–739.
7. Lau, K.S., Partridge, E.A., Grigorian, A., Silvescu, C.I., Reinhold, V.N., Demetriou, M., et al. Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation. Cell 129 (2007), 123–134.
8. Greig, K.T., Antonchuk, J., Metcalf, D., Morgan, P.O., Krebs, D.L., Zhang, J.G., et al. Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol 27 (2007), 5849–5859.
9. Cummings, R.D., Kornfeld, S., Characterization of the structural determinants required for the high affinity interaction of asparagine-linked oligosaccharides with immobilized Phaseolus vulgaris leukoagglutinating and erythroagglutinating lectins. J Biol Chem 257 (1982), 11230–11234.
10. Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M., Jaeken, J., Cassiman, J.J., et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16 (1997), 88–92.
11. Grubenmann, C.E., Frank, C.G., Kjaergaard, S., Berger, E.G., Aebi, M., Hennet, T., ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. Hum Mol Genet 11 (2002), 2331–2339.
12. De Praeter, C.M., Gerwig, G.J., Bause, E., Nuytinck, L.K., Vliegenthart, J.F.G., Breuer, W., et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet 66 (2000), 1744–1756.
13. Enns, G.M., Shashi, V., Bainbridge, M., Gambello, M.J., Zahir, F.R., Bast, T., et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med 16 (2014), 751–758.
14. Yu, S.H., Bond, M.R., Whitman, C.M., Kohler, J.J., Metabolic labeling of glycoconjugates with photocrosslinking sugars. Methods Enzymol 478 (2010), 541–562.