Video Upload Options

References

1. Jaeken J, Lefeber DJ, Matthijs G. Clinical Utility Gene Card for: PGM3defective congenital disorder of glycosylation. Eur J Hum Genet. 2019Nov;27(11):1757-1760. doi: 10.1038/s41431-019-0453-y.
2. Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, MørkridL, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, SmithCI. Susceptibility to infections, without concomitant hyper-IgE, reported in1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002.
3. Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T,Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I,Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H,Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M,Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, SchäfferAA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Hypomorphic homozygousmutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgElevels. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi:10.1016/j.jaci.2014.02.025.
4. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC,Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C,Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF,Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR;Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA,Lupski JR, Orange JS, Lausch E, Hanson IC. PGM3 mutations cause a congenitaldisorder of glycosylation with severe immunodeficiency and skeletal dysplasia. AmJ Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007.
5. Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3deficiency. Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi:10.1097/MOP.0000000000000158. Review.
6. Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES,Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, HollandSM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC,Milner JD. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations linkglycosylation defects to atopy, immune deficiency, autoimmunity, andneurocognitive impairment. J Allergy Clin Immunol. 2014 May;133(5):1400-9,1409.e1-5. doi: 10.1016/j.jaci.2014.02.013.