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Hyper IgE syndromes: clinical and molecular characteristics.
Al-Shaikhly T, Ochs HD. Al-Shaikhly T, et al. Immunol Cell Biol. 2019 Apr;97(4):368-379. doi: 10.1111/imcb.12209. Epub 2018 Nov 19. Immunol Cell Biol. 2019. PMID: 30264496 Review.
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. ...Moreover, a number of phenotypically distinct immunodeficiency …
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, …
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ...Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) a …
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. .. …
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. Stray-Pedersen A, et al. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. ...Whole-exome s …
Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate durin …
PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L, Zerbato B, Pessina A, Brambilla L, Andreani V, Frey-Jakobs S, Fliegauf M, Barbouche MR, Zhang Q, Chiaradonna F, Proietti M, Du X, Grimbacher B. Yang L, et al. Front Immunol. 2024 Dec 24;15:1500381. doi: 10.3389/fimmu.2024.1500381. eCollection 2024. Front Immunol. 2024. PMID: 39776909 Free PMC article.
BACKGROUND: Hypomorphic mutations in the phosphoacetylglucosamine mutase 3 (PGM3) gene cause a glycosylation disorder that leads to immunodeficiency. It is often associated with recurrent infections and atopy. ...OBJECTIVE: This study aimed to characterize th …
BACKGROUND: Hypomorphic mutations in the phosphoacetylglucosamine mutase 3 (PGM3) gene cause a glycosylation disorder that lea …
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL. Zhang Q, et al. Mamm Genome. 2018 Aug;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Mamm Genome. 2018. PMID: 30094507 Free PMC article. Review.
Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 deficiency, the only disorder corresponding to the original definition of HIES, and autosomal recessive (AR) DOCK8 and PGM3 deficiencie …
Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 de …
Immunological aspects of congenital disorders of glycosylation (CDG): a review.
Monticelli M, Ferro T, Jaeken J, Dos Reis Ferreira V, Videira PA. Monticelli M, et al. J Inherit Metab Dis. 2016 Nov;39(6):765-780. doi: 10.1007/s10545-016-9954-9. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393411 Review.
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. ...CDG with major immunological involvement are ALG12-CDG, MAGT1-CDG, MOGS-CDG, SLC35C1-CDG and PGM …
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more tha …
Primary Immunodeficiencies with Elevated IgE.
Mogensen TH. Mogensen TH. Int Rev Immunol. 2016;35(1):39-56. doi: 10.3109/08830185.2015.1027820. Epub 2015 May 13. Int Rev Immunol. 2016. PMID: 25970001 Review.
The genetic basis for the majority of conditions with elevated IgE has now been established and includes mutations in STAT3, DOCK8, TYK2, and most recently PGM3 molecules. However, in some patients with the relevant phenotype, mutations in these molecules are not identifie …
The genetic basis for the majority of conditions with elevated IgE has now been established and includes mutations in STAT3, DOCK8, TYK2, an …
CDG and immune response: From bedside to bench and back.
Pascoal C, Francisco R, Ferro T, Dos Reis Ferreira V, Jaeken J, Videira PA. Pascoal C, et al. J Inherit Metab Dis. 2020 Jan;43(1):90-124. doi: 10.1002/jimd.12126. Epub 2019 Jun 25. J Inherit Metab Dis. 2020. PMID: 31095764 Review.
Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein-attached glycans that mediate cell-cell …
Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating …
Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media.
Wu J, Hong L, Chen TX. Wu J, et al. Curr Allergy Asthma Rep. 2018 Aug 15;18(10):51. doi: 10.1007/s11882-018-0806-6. Curr Allergy Asthma Rep. 2018. PMID: 30112673 Review.
PURPOSE OF REVIEW: The hyper IgE syndromes (HIES) comprise a group of rare primary immunodeficiency disorders (PIDDs), which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections. ...RECENT FINDINGS: Although hyper ser …
PURPOSE OF REVIEW: The hyper IgE syndromes (HIES) comprise a group of rare primary immunodeficiency disorders (PIDDs), which a …
Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?
Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VASH, Milota T, Cinetto F, Chovancova Z, Rial MJ, Sediva A, Litzman J, Agostini C, van Hagen M, Quinti I, Jolles S. Ponsford MJ, et al. Allergy. 2018 Nov;73(11):2122-2136. doi: 10.1111/all.13578. Epub 2018 Oct 2. Allergy. 2018. PMID: 30043993 Review.
The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototypic Job's syndrome (autosomal dominant STAT3-loss of function) and autosomal recessive PGM3 and SPINK5 syndromes. Early diagnosis of …
The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototy …
24 results