نتائج البحث - "hyper‐IgM syndrome"

1

Academic Journal

Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan

المؤلفون: Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Akifumi Endo, Hirokazu Kanegane, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama

المصدر: Immunological Medicine, Vol 46, Iss 4, Pp 153-157 (2023)

مصطلحات موضوعية: APDS, hyper-IgM syndrome, immune dysregulations, diagnostic flow chart, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2578-5826

URL الوصول: https://doaj.org/article/f9f8fcf3a735433e9c853e54072fe3d6

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2

Academic Journal

Secondary C1q Deficiency in Activated PI3K delta Syndrome Type 2

المؤلفون: Hong, Y., Nanthapisal, S., Omoyinmi, E., Olbrich, Peter, Neth, O., Speckmann, C., Lucena, J.M., Gilmour, K., Genomics England Res Consortium, Zarowiecki, M.

المساهمون: Universidad de Sevilla. Departamento de Farmacología, Pediatría y Radiología, Instituto de Biomedicina de Sevilla (IBIS), Programa Juan Rodes, Instituto de Salud Carlos III

مصطلحات موضوعية: Digital vasculitis, C1q deficiency, SHORT syndrome, Activated PI3Kδ syndrome type 2, Hyper-IgM syndrome, Immunodeficiency

Relation: Frontiers In Immunology, 10, 2589.; JR18/00042; https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.02589/full; https://idus.us.es/handle//11441/158753

الاتاحة: https://idus.us.es/handle//11441/158753

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3

Academic Journal

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome (APSD 2): case report ; Linfoproliferación e hiper-IgM como manifestación inicial del síndrome de la cinasa 3-fosfoinosítida activada (APSD 2): reporte de caso

المؤلفون: Fernandes-Pineda , Mónica, Zea-Vera, Andres F.

المصدر: Biomedica; Vol. 44 No. Sp. 2 (2024): Inmunología clínica ; Biomédica; Vol. 44 Núm. Sp. 2 (2024): Inmunología clínica ; 2590-7379 ; 0120-4157

مصطلحات موضوعية: Primary immunodeficiency, Activated phosphoinositide 3-kinase delta syndrome (APDS), APDS2, Hyper IgM syndrome, lymphoproliferation, autoimmunity, Autoimmune diseases, Inmunodeficiencia primaria, Síndrome de la cinasa 3-fosfoinosítida activada (APDS), Síndrome de hiper IgM, Linfoproliferación, Autoinmunidad, Disregulación inmmune

وصف الملف: application/pdf

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/7436/5521; https://revistabiomedica.org/index.php/biomedica/article/view/7436

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/7436

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4

Academic Journal

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report

المؤلفون: Hong-bo Xu, Mao-qiang Tian, Yong-hua Bai, Xiao Ran, Lei Li, Yan Chen

المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: CD40LG gene, X-linked hyper-IgM syndrome, Pulmonary alveolar proteinosis, Pediatrics, Case report, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/c1fbe9f4abc24409b41f021544025303

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5

Academic Journal

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children

المؤلفون: Lee, Pamela P, Lao-araya, Mongkol, Yang, Jing, Chan, Koon-Wing, Ma, Haiyan, Pei, Lim-Cho, Kui, Lin, Mao, Huawei, Yang, Wanling, Zhao, Xiaodong, Trakultivakorn, Muthita, Lau, Yu-Lung

URL الوصول: https://escholarship.org/uc/item/5gp8q8tj

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6

Academic Journal

X-linked hyper IgM syndrome with severe eosinophilia: a case report and review of the literature

المؤلفون: He Li, Yang Cao, Jijun Ma, Chongwei Li

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: X-linked hyper IgM syndrome, Severe eosinophilia, Interstitial lung disease, Pneumocystis jirovecii pneumonia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/a9546b8ff0b84587b16b8198f40ccbea

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7

Academic Journal

Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome

المؤلفون: Kuo, Caroline Y, Long, Joseph D, Campo-Fernandez, Beatriz, de Oliveira, Satiro, Cooper, Aaron R, Romero, Zulema, Hoban, Megan D, Joglekar, Alok V, Lill, Georgia R, Kaufman, Michael L, Fitz-Gibbon, Sorel, Wang, Xiaoyan, Hollis, Roger P, Kohn, Donald B

المصدر: Cell Reports. 23(9)

مصطلحات موضوعية: Biological Sciences, Stem Cell Research, Biotechnology, Stem Cell Research - Nonembryonic - Human, Pediatric, Regenerative Medicine, Hematology, Rare Diseases, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Gene Therapy, 5.2 Cellular and gene therapies, 2.1 Biological and endogenous factors, Inflammatory and immune system, Animals, Antigens, CD34, Base Sequence, CD40 Ligand, CRISPR-Associated Protein 9, CRISPR-Cas Systems, Cell Differentiation, Cell Line, Colony-Forming Units Assay, DNA Repair, DNA, Complementary, Gene Editing, Genetic Diseases, X-Linked, Hematopoietic Stem Cells, Humans, Hyper-IgM Immunodeficiency Syndrome, Mice, T-Lymphocytes, Transcription Activator-Like Effector Nucleases, CD40 ligand, CRISPR/Cas9, TALEN, X-linked hyper-IgM syndrome, gene editing, gene therapy, hematopoietic stem cell, primary immunodeficiency, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2x34q4m2
https://escholarship.org/content/qt2x34q4m2/qt2x34q4m2.pdf

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8

Academic Journal

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

المؤلفون: de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C, Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L, Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D, Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, Roifman, Chaim M

المصدر: The Journal of allergy and clinical immunology. 139(4)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6xs885dg

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9

Academic Journal

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it

المؤلفون: Vilela, Maria Marluce dos Santos

المصدر: Jornal de Pediatria. April 2021 97(1)

مصطلحات موضوعية: Antibody deficiency, Agammaglobulinemia, Common variable immunodeficiency, Hyper IgM syndrome

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572021000700067

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10

Academic Journal

Hyper IgM Syndrome: a Report from the USIDNET Registry.

المؤلفون: Leven, Emily, Maffucci, Patrick, Ochs, Hans, Scholl, Paul, Buckley, Rebecca, Fuleihan, Ramsay, Geha, Raif, Cunningham, Coleen, Bonilla, Francisco, Conley, Mary, Ferdman, Ronald, Hernandez-Trujillo, Vivian, Puck, Jennifer, Sullivan, Kathleen, Secord, Elizabeth, Ramesh, Manish, Cunningham-Rundles, Charlotte

المصدر: Journal of Clinical Immunology. 36(5)

مصطلحات موضوعية: CD40/CD40L, Hyper IgM Syndrome, Primary immune deficiency, USIDNET, Adolescent, Adult, CD40 Ligand, Child, Child, Preschool, Diarrhea, Female, Hematopoietic Stem Cell Transplantation, Humans, Hyper-IgM Immunodeficiency Syndrome, Male, Middle Aged, Mutation, Neutropenia, Registries, Survival Analysis, United States, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9z4504ks
https://escholarship.org/content/qt9z4504ks/qt9z4504ks.pdf

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11

Academic Journal

Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome

المصدر: EMBO Molecular Medicine, Vol 13, Iss 3, Pp 1-25 (2021)

مصطلحات موضوعية: CRISPR‐Cas gene editing, hematopoietic stem cells, T‐cell therapy, truncated EGFR, X‐linked hyper‐IgM Syndrome, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/9aef4eba41804327af789ffa8b24647a

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12

Academic Journal

Mobilization-based chemotherapy-free engraftment of gene-edited human hematopoietic stem cells

المؤلفون: Omer-Javed, Attya, Pedrazzani, Gabriele, Albano, Luisa, Ghaus, Sherash, Latroche, Claire, Manzi, Maura, Ferrari, Samuele, Fiumara, Martina, Jacob, Aurelien, Vavassori, Valentina, Nonis, Alessandro, Canarutto, Daniele, Naldini, Luigi

المساهمون: Omer-Javed, Attya, Pedrazzani, Gabriele, Albano, Luisa, Ghaus, Sherash, Latroche, Claire, Manzi, Maura, Ferrari, Samuele, Fiumara, Martina, Jacob, Aurelien, Vavassori, Valentina, Nonis, Alessandro, Canarutto, Daniele, Naldini, Luigi

مصطلحات موضوعية: RNA-based delivery, X-linked hyper-IgM syndrome, autologous stem cell transplantation, conditioning-free, gene transfer, hematopoietic stem cells, human hematochimeric mouse model, mobilization, Animals, Genetic Therapy, Humans, Mice, Gene Editing, Hematopoietic Stem Cell Transplantation

Relation: info:eu-repo/semantics/altIdentifier/pmid/35617958; info:eu-repo/semantics/altIdentifier/wos/WOS:000823662300008; volume:185; issue:13; firstpage:2248; lastpage:2264; numberofpages:17; journal:CELL; https://hdl.handle.net/20.500.11768/132991

الاتاحة: https://hdl.handle.net/20.500.11768/132991
https://doi.org/10.1016/j.cell.2022.04.039
https://www.cell.com/cell/fulltext/S0092-8674(22)00537-2?_returnURL=https://linkinghub.elsevier.com/retrieve/pii/S0092867422005372?showall=true

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13

Academic Journal

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting

المؤلفون: Dirks, Johannes, Haase, Gabriele, Cantaert, Tineke, Frey, Lea, Klaas, Moritz, Rickert, Christian, Girschick, Hermann, Meffre, Eric, Morbach, Henner

المساهمون: University Hospital of Würzburg, Institut Pasteur du Cambodge, Pasteur Network (Réseau International des Instituts Pasteur), Julius-Maximilians-Universität Würzburg = University of Würzburg Würsburg, Germany (JMU), Vivantes Klinikum Friedrichshain, Yale School of Medicine New Haven, Connecticut (YSM), Open Access funding enabled and organized by Projekt DEAL. The work was supported by internal grants of the University Childrens’ Hospital Würzburg and NIH/NIAID grant AI-061093 to EM. JD was supported by a personal grant of the Interdisciplinary Center for Clinical Research, University Hospital Würzburg.

المصدر: ISSN: 0271-9142.

مصطلحات موضوعية: Hyper-IgM syndrome type 2, AICDA, AID-ΔE4a, AD-AID, Mutational targeting, Somatic hypermutation, [SDV]Life Sciences [q-bio]