المؤلفون: Fusaro, Mathieu^{Aff1, Aff2}, Vincent, Aline, Castelle, Martin, Rosain, Jérémie^{Aff2, Aff5}, Fournier, Benjamin^{Aff1, Aff4}, Veiga-da-Cunha, Maria, Kentache, Takfarinas, Serre, Jill, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Renesme, Laurent, Picard, Fanny Morice, Lasseaux, Eulalie, Aladjidi, Nathalie^{Aff12, Aff13}, Seta, Nathalie, Cormier-Daire, Valérie^{Aff1, Aff15}, Schaftingen, Emile van, Neven, Bénédicte^{Aff1, Aff4}, Moshous, Despina^{Aff1, Aff4}, Blesson, Sophie, Picard, Capucine^{Aff1, Aff2, Aff4, Aff16}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(5):958-966

المؤلفون: Minnie Jacob, Afshan Masood, Anas M. Abdel Rahman

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 3, p 2406 (2023)

مصطلحات موضوعية: signal transducer and activator of transcription 3 (STAT3), phosphoglucomutase 3 (PGM3), dedicator of cytokinesis 8 (DOCK8), hyper IgE syndromes (HIES), multi-omics, metabolomics, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/24/3/2406; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/f5af75a15e3a41c1a31687b98a838f31

المؤلفون: Sassi, Atfa, Lazaroski, Sandra, Wu, Gang, Haslam, Stuart M, Fliegauf, Manfred, Mellouli, Fethi, Patiroglu, Turkan, Unal, Ekrem, Ozdemir, Mehmet Akif, Jouhadi, Zineb, Khadir, Khadija, Ben-Khemis, Leila, Ben-Ali, Meriem, Ben-Mustapha, Imen, Borchani, Lamia, Pfeifer, Dietmar, Jakob, Thilo, Khemiri, Monia, Asplund, A Charlotta, Gustafsson, Manuela O, Lundin, Karin E, Falk-Sörqvist, Elin, Moens, Lotte N, Gungor, Hatice Eke, Engelhardt, Karin R, Dziadzio, Magdalena, Stauss, Hans, Fleckenstein, Bernhard, Meier, Rebecca, Prayitno, Khairunnadiya, Maul-Pavicic, Andrea, Schaffer, Sandra, Rakhmanov, Mirzokhid, Henneke, Philipp, Kraus, Helene, Eibel, Hermann, Kölsch, Uwe, Nadifi, Sellama, Nilsson, Mats, Bejaoui, Mohamed, Schäffer, Alejandro A, Smith, CI Edvard, Dell, Anne, Barbouche, Mohamed-Ridha, Grimbacher, Bodo

المصدر: Journal of Allergy and Clinical Immunology. 133(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Clinical Research, Genetics, Rare Diseases, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Amino Acid Substitution, Cell Proliferation, Child, Chromosomes, Human, Pair 6, Female, Genetic Diseases, Inborn, Genetic Linkage, Glycosylation, Homozygote, Humans, Immunity, Immunoglobulin E, Infant, Job Syndrome, Male, Mutation, Missense, Phosphoglucomutase, T-Lymphocytes, Tunisia, Hyper-IgE syndrome, glycosylation, Staphylococcus aureus, signal transducer and activator of transcription 3, dedicator of cytokinesis 8, phosphoglucomutase 3, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7525r0rf

المؤلفون: Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall, C.I. Edvard Smith

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Congenital disorder of glycosylation, Hyper-IgE, N-acetylglucosamine-phosphate mutase, PGM3 enzyme activity, Phosphoglucomutase 3, Primary immunodeficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-018-1258-9; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/a6e1df9a6703422893cc377f144f1b9d

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المؤلفون: Lundin, Karin E.^Aff1, Wang, Qing^Aff1, Hamasy, Abdulrahman^{Aff1, Aff2}, Marits, Per^Aff3, Uzunel, Mehmet^Aff3, Wirta, Valtteri^{Aff4, Aff5}, Wikström, Ann-Charlotte^Aff3, Fasth, Anders^Aff6, Ekwall, Olov^{Aff6, Aff7}, Smith, C.I. Edvard^Aff1

المصدر: BMC Pediatrics. 18(1)

المؤلفون: Wu, Gang, Hitchen, Paul G., Panico, Maria, North, Simon J., Barbouche, Mohamed-Ridha, Binet, Daniel, Morris, Howard R., Dell, Anne, Haslam, Stuart M.

المصدر: Glycoconjugate Journal: Official Journal of the International Glycoconjugate Organization. June 2016 33(3):447-456

المؤلفون: Maria Veiga-da-Cunha, Aline Vincent, Jérémie Rosain, Martin Castelle, Jill Serre, Laurent Renesme, Valérie Cormier-Daire, Takfarinas Kentache, Benjamin Fournier, Sophie Blesson, Nathalie Aladjidi, Despina Moshous, Mathieu Fusaro, Eulalie Lasseaux, Capucine Picard, Fanny Morice Picard, Nathalie Seta, Bénédicte Neven, Anne-Lise Delezoide, Catherine Fallet-Bianco, Emile Van Schaftingen

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Journal of clinical immunology, Vol. 41, no. 5, p. 958-966 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Immunology, Limb Deformities, Congenital, macromolecular substances, Disease, Virus, N-Acetylphosphoglucosamine, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Immunology and Allergy, Missense mutation, Congenital disorders of glycosylation, Abnormalities, Multiple, Bone Diseases, Developmental, Severe combined immunodeficiency, Primary immunodeficiency, business.industry, Infant, Newborn, Infant, Phosphoglucomutase 3, medicine.disease, PGM3, 030104 developmental biology, Phosphoglucomutase, Dysplasia, Child, Preschool, Face, Skeletal dysplasia, Female, Severe Combined Immunodeficiency, Nervous System Diseases, business, Congenital disorder of glycosylation, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4ecf4b4daa146cf3e124405a3d3fef
https://doi.org/10.1007/s10875-021-00985-w

المؤلفون: Pious, Donald, Hawley, Pamela, Forrest, Gary

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1973 May 01. 70(5), 1397-1400.

URL الوصول: https://www.jstor.org/stable/62128

المؤلفون: Abdulrahman Hamasy, Olov Ekwall, Qing Wang, C. I. Edvard Smith, Valtteri Wirta, Ann-Charlotte Wikström, Mehmet Uzunel, Karin E. Lundin, Anders Fasth, Per Marits

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)
BMC Pediatrics

مصطلحات موضوعية: 0301 basic medicine, T cell, PGM3 enzyme activity, Case Report, medicine.disease_cause, Hyper-IgE, 03 medical and health sciences, Exon, 0302 clinical medicine, Fatal Outcome, Medicine, Missense mutation, Humans, RNA, Messenger, Immunodeficiency, N-acetylglucosamine-phosphate mutase, Mutation, Splice site mutation, Primary immunodeficiency, business.industry, Homozygote, Immunologic Deficiency Syndromes, lcsh:RJ1-570, Congenital disorder of glycosylation, lcsh:Pediatrics, Phosphoglucomutase 3, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Phosphoglucomutase, Child, Preschool, Pediatrics, Perinatology and Child Health, Cancer research, Female, RNA Splice Sites, Splice-modifying mutation, business, 030217 neurology & neurosurgery, CD8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe32c39baa5a5d2a145be4ee0aa132c
http://link.springer.com/article/10.1186/s12887-018-1258-9