Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.

Lundin KE, Wang Q, Hamasy A, Marits P, Uzunel M, Wirta V, Wikström AC, Fasth A, Ekwall O, Smith CIE.

BMC Pediatr. 2018 Aug 29;18(1):285. doi: 10.1186/s12887-018-1258-9.

2.

Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media.

Wu J, Hong L, Chen TX.

Curr Allergy Asthma Rep. 2018 Aug 15;18(10):51. doi: 10.1007/s11882-018-0806-6. Review.

PMID:
30112673
3.

Human hyper-IgE syndrome: singular or plural?

Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL.

Mamm Genome. 2018 Aug;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Review.

4.

Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.

Eissa S, Abdulkarim H, Dasouki M, Al Mousa H, Arnout R, Al Saud B, Rahman AA, Zourob M.

Biosens Bioelectron. 2018 Oct 15;117:613-619. doi: 10.1016/j.bios.2018.06.058. Epub 2018 Jun 28.

PMID:
30005381
5.

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM.

J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26.

6.

What is new in CDG?

Jaeken J, Péanne R.

J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. Review. Erratum in: J Inherit Metab Dis. 2017 Jun 26;:.

PMID:
28484880
7.

Immunological aspects of congenital disorders of glycosylation (CDG): a review.

Monticelli M, Ferro T, Jaeken J, Dos Reis Ferreira V, Videira PA.

J Inherit Metab Dis. 2016 Nov;39(6):765-780. Epub 2016 Jul 8. Review.

PMID:
27393411
8.

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

Willems AP, van Engelen BG, Lefeber DJ.

Biochim Biophys Acta. 2016 Aug;1860(8):1640-54. doi: 10.1016/j.bbagen.2015.12.017. Epub 2015 Dec 22. Review.

PMID:
26721333
9.

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.

Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI.

Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002. Epub 2015 Oct 19.

10.

Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.

Bernth-Jensen JM, Holm M, Christiansen M.

J Allergy Clin Immunol. 2016 Jan;137(1):321-324. doi: 10.1016/j.jaci.2015.07.047. Epub 2015 Sep 26. No abstract available.

PMID:
26409661
11.

Primary Immunodeficiencies with Elevated IgE.

Mogensen TH.

Int Rev Immunol. 2016;35(1):39-56. doi: 10.3109/08830185.2015.1027820. Epub 2015 May 13. Review.

PMID:
25970001
12.

Advances in basic and clinical immunology in 2014.

Chinen J, Notarangelo LD, Shearer WT.

J Allergy Clin Immunol. 2015 May;135(5):1132-41. doi: 10.1016/j.jaci.2015.02.037. Review.

PMID:
25956014
13.

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN, Falk-Sörqvist E, Asplund AC, Bernatowska E, Smith CI, Nilsson M.

PLoS One. 2014 Dec 11;9(12):e114901. doi: 10.1371/journal.pone.0114901. eCollection 2014.

14.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

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.

Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.

15.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

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, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD.

J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28.

Supplemental Content

Loading ...
Support Center