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4. Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. Wu G; Hitchen PG; Panico M; North SJ; Barbouche MR; Binet D; Morris HR; Dell A; Haslam SM Glycoconj J; 2016 Jun; 33(3):447-56. PubMed ID: 26687240 [TBL] [Abstract][Full Text] [Related]
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8. An Update on Syndromes with a Hyper-IgE Phenotype. Bergerson JRE; Freeman AF Immunol Allergy Clin North Am; 2019 Feb; 39(1):49-61. PubMed ID: 30466772 [TBL] [Abstract][Full Text] [Related]
9. 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; 18(1):285. PubMed ID: 30157810 [TBL] [Abstract][Full Text] [Related]
10. Primary Immunodeficiencies with Elevated IgE. Mogensen TH Int Rev Immunol; 2016; 35(1):39-56. PubMed ID: 25970001 [TBL] [Abstract][Full Text] [Related]
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14. Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. Jacob M; Masood A; Abdel Rahman AM Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36768728 [TBL] [Abstract][Full Text] [Related]
15. Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features. García-García A; Buendia Arellano M; Deyà-Martínez À; Lozano Blasco J; Serrano M; Van Den Rym A; García-Solis B; Esteve-Solé A; Yiyi L; Vlagea A; Solanich X; Fisher MR; Lyons JJ; de Diego RP; Alsina L Pediatr Allergy Immunol; 2021 Apr; 32(3):566-575. PubMed ID: 33098103 [TBL] [Abstract][Full Text] [Related]
16. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations. Fusaro M; Vincent A; Castelle M; Rosain J; Fournier B; Veiga-da-Cunha M; Kentache T; Serre J; Fallet-Bianco C; Delezoide AL; Renesme L; Picard FM; Lasseaux E; Aladjidi N; Seta N; Cormier-Daire V; Schaftingen EV; Neven B; Moshous D; Blesson S; Picard C J Clin Immunol; 2021 Jul; 41(5):958-966. PubMed ID: 33534079 [TBL] [Abstract][Full Text] [Related]
17. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. Engelhardt KR; McGhee S; Winkler S; Sassi A; Woellner C; Lopez-Herrera G; Chen A; Kim HS; Lloret MG; Schulze I; Ehl S; Thiel J; Pfeifer D; Veelken H; Niehues T; Siepermann K; Weinspach S; Reisli I; Keles S; Genel F; Kutukculer N; Camcioğlu Y; Somer A; Karakoc-Aydiner E; Barlan I; Gennery A; Metin A; Degerliyurt A; Pietrogrande MC; Yeganeh M; Baz Z; Al-Tamemi S; Klein C; Puck JM; Holland SM; McCabe ER; Grimbacher B; Chatila TA J Allergy Clin Immunol; 2009 Dec; 124(6):1289-302.e4. PubMed ID: 20004785 [TBL] [Abstract][Full Text] [Related]
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