المؤلفون: Dana Unninayar, Emilia L. Falcone, Hugo Chapdelaine, Donald C. Vinh, Karina A. Top, Beata Derfalvi, Thomas B. Issekutz, Hélène Decaluwe, Anne Pham-Huy, Julia Upton, Stephen D. Betschel, Tamar Rubin, Sneha Suresh, Nicola A. M. Wright, Luis Murguía-Favela, Tatiana Kalashnikova, Lisa Barrett, Sharon Oldford, Marc-Andre Langlois, Corey Arnold, Manish Sadarangani, Tinghua Zhang, Tim Ramsay, Dina Yazji, Juthaporn Cowan

المصدر: Frontiers in Immunology, Vol 15 (2025)

مصطلحات موضوعية: COVID-19, vaccine response, inborn error of immunity, humoral immunity, cellular mediated immunity, immunogenicity, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1501908/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/e6198542dd7346009d446b888341ad3e

المؤلفون: Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou

المصدر: Frontiers in Immunology, Vol 15 (2025)

مصطلحات موضوعية: CXCR4 variant, gain-of-function, inborn error of immunity, WHIM syndrome, heterogeneous phenotype, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1544964/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/fc5ca0f511454a53aae326a797ebc629

المؤلفون: Allison S. Remiker, Joao Pedro Matias Lopes, Rohith Jesudas, Alexandra Superdock, Nami Park, Irina Pateva

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: recalcitrant cytopenias, early-onset cytopenias, inborn error of immunity, activated PI3Kδ syndrome, case series, genetic testing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1494945/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/317269bf14a544a7a261a738b6d71199

المؤلفون: Dieu T. Doan, MD, Paige V. Strebeck, MD, Andrew D. Tran, MD, Jason E. Farrar, MD, Lauren E. Appell, MD, Arunkumar J. Modi, MBBS, MPH, Akilah A. Jefferson, MD, MSc

المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 4, Pp 100313- (2024)

مصطلحات موضوعية: Immunodeficiency, GATA2, GATA2 deficiency, inborn error of immunity, warts, cutaneous warts, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829324001097; https://doaj.org/toc/2772-8293

URL الوصول: https://doaj.org/article/1bcf5094ba034ed6a5988b6ba8312710

المؤلفون: Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: CXCR4 variant, gain-of-function, inborn error of immunity, WHIM syndrome, heterogeneous phenotype, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1460990/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/9872af50823f499b94fd1f59fc7c5f13

المؤلفون: Abbas khalili

المصدر: Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 32, Iss 1, Pp 7405-7415 (2024)

مصطلحات موضوعية: primary immunodeficiency, allergy, eczema, dermatitis, inborn error of immunity., Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://jssu.ssu.ac.ir/article-1-6088-en.pdf; https://doaj.org/toc/2228-5741; https://doaj.org/toc/2228-5733

URL الوصول: https://doaj.org/article/5d3704424c4d449f81c27d412e33522a

المؤلفون: Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD

المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100251- (2024)

مصطلحات موضوعية: Autoinflammatory disorder, dyskeratosis, NLRP1, inborn error of immunity, IL1RA-inhibitor, anakinra, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S277282932400047X; https://doaj.org/toc/2772-8293

URL الوصول: https://doaj.org/article/210227899b844bb195a274154294107a

المؤلفون: Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: Aplastic anemia, inborn error of immunity (IEI), novel variant, CTLA-4, haploinsufficiency, hematopoietic stem cell transplantation (HSCT), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1434076/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5324ac2bf76d46c88d830dc944e94e14

المؤلفون: Alejandro Nieto-Patlán, Natalia S. Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R. Lupski, Steven M. Holland, Bo Yuan, Douglas B. Kuhns, Tiphanie P. Vogel, Ivan K. Chinn

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: p40phox deficiency, NADPH oxidase complex, NCF4, reactive oxygen species, systemic lupus erythematosus, inborn error of immunity, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1425874/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5926a4b411d84bacae707c1d876e5f92

المؤلفون: Adil Karim, Rashi Garg, Biman Saikia, Abha Tiwari, Smrity Sahu, Mehak Malhotra, Ranjana W. Minz, Amit Rawat, Surjit Singh, Deepti Suri

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: inborn error of immunity (IEI), primary immunodeficencies (PID), Hyper IgE syndrome (HIES), signal transducer and activator of transcription 3 (STAT3), Regulated upon Activation, normal T-cell expressed and secreted chemokines (RANTES), Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1332817/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/74133cf61e324bbfa36cdecfba5e5655

المؤلفون: Yoshine Saito, Anupama Kewalramani, Xiao P. Peng, Aimee Magnarelli, Howard M. Lederman

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: inborn error of immunity (IEI), sweet syndrome, neutrophilic dermatosis, leukocyte adhesion deficiency type 1, whole exome sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1425289/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/2098303c667a4cd9b138ab73ec34ea13

المؤلفون: Joanne J. F. Wang, Arün Dhir, Kyla J. Hildebrand, Stuart E. Turvey, Robert Schellenberg, Luke Y. C. Chen, Persia Pourshahnazari, Catherine M. Biggs

المصدر: Allergy, Asthma & Clinical Immunology, Vol 20, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Inborn error of immunity, Primary immunodeficiency, Adulthood, Evaluation, Diagnosis, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1710-1492

URL الوصول: https://doaj.org/article/bef2be6a521b4c328034777f254ae817

المؤلفون: Smith, Kelsey L, Dai, Darlene, Modi, Bhavi P, Sara, Rahnuma, Garabedian, Elizabeth, Marsh, Rebecca A, Puck, Jennifer, Secord, Elizabeth, Sullivan, Kathleen E, Turvey, Stuart E, Biggs, Catherine M

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Eosinophilia, Humans, Immunoglobulin E, Inflammation, Registries, Retrospective Studies, atopy, primary immunodeficiency, IgE, eosinophilia, inborn error of immunity, USIDNET Consortium, Immunology, Medical Microbiology, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5t46p6q6
https://escholarship.org/content/qt5t46p6q6/qt5t46p6q6.pdf

المؤلفون: Catherine King, Katie Ridge, James Smyth, Aisling M. Flinn, Timothy Ronan Leahy, Niall Conlon

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: inborn error of immunity, immunodeficiency, pediatric, transition, microcosting, patient experience survey, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1270451/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/d48650f28a6743b195857352f85da06f

المؤلفون: Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: severe combined immunodeficiency, reticular dysgenesis, RAC2, inborn error of immunity, novel variant, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1365187/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/378194d6bbd641198e83f5f2775078f5

المؤلفون: Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava, Outi Mäkitie

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Immunodeficiency, Inborn error of immunity, Cartilage-hair hypoplasia, Periodontitis, Oral mucosal lesion, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5e125b08c8f64f8b82d3dc05923cde5f

المؤلفون: Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD

المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)

مصطلحات موضوعية: Immunodeficiency, inborn error of immunity, lymphopenia, machine learning, RMRP, TREC, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829323001157; https://doaj.org/toc/2772-8293

URL الوصول: https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef

المؤلفون: Fusaro, Mathieu, Coustal, Cyrille, Barnabei, Laura, Riller, Quentin, Heller, Marion, Ho Nhat, Duong, Fourrage, Cécile, Rivière, Sophie, Rieux-Laucat, Frédéric, Maria, Alexandre Thibault Jacques, Picard, Capucine

المساهمون: Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Structure Fédérative de Recherche Necker (UAR 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d'immuno-hématologie pédiatrique CHU Necker, Research in CP laboratory was supported by the Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH) and ERA-Net for Research Programmes on Rare Diseases (E-Rare: EuroCID, ANR RANR187, n◦061-2016-050). M.F. is supported by Fondation pour la Recherche Médicale (grant ID: FDM202006011216). Research in FRL’s laboratory was supported by fundings from the Institut National de la Santé et de la Recherche Médicale (INSERM), the French government (managed by French National Research Agency (Agence Nationale de la Recherche) through the “Investissements d’avenir” program (Institut Hospitalo-Universitaire Imagine, grant reference: ANR-10-IAHU-01, Recherche Hospitalo-Universitaire, grant reference: ANR-18-RHUS-0010)), and other grants from the Agence National de la Recherche (ANR-18-CE17-0001 “Action”), and the Fondation pour la Recherche Médicale (grant reference: Equipe FRM EQU202103012670). L.B. was a recipient of an Imagine institute PhD international program supported by the Fondation Bettencourt Schueller. L.B. was also supported by the EUR G.E.N.E. (reference #ANR-17-EURE-0013) and is part of the Université de Paris IdEx #ANR-18-IDEX-0001 funded by the French Government through its “Investments for the Future” program., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-18-RHUS-0010,ATRACTION,Autoimmunity/inflammation Through Rnaseq Analysis at the single Cell level for Therapeutic Innovation(2018), ANR-18-CE17-0001,ACTION,Cytopénies Auto-immunes: génétique et mécanismes physiopathologiques du syndrome d'Evans pédaitrique(2018), ANR-17-EURE-0013,GENE,Génétique et Epigénétique Nouvelle Ecole(2017), ANR-18-IDEX-0001,Université de Paris,Université de Paris(2018)

المصدر: ISSN: 1521-6616.

مصطلحات موضوعية: Copy number variation (CNV), Hypogammaglobulinemia, Inborn error of immunity (IEI), NFKB1, Noncoding region, Nuclear factor k light-chain enhancer of activated B cells (NFκB), Primary immunodeficiency, Promoter, p105, p50, MESH: Male, MESH: Adult, MESH: NF-kappa B p50 Subunit, MESH: Humans, MESH: Middle Aged, MESH: Siblings, MESH: Haploinsufficiency, MESH: DNA Copy Number Variations, MESH: NF-kappa B, MESH: Common Variable Immunodeficiency, MESH: Regulatory Sequences, Nucleic Acid, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38423196; PUBMED: 38423196

الاتاحة: https://hal.science/hal-04795086
https://hal.science/hal-04795086v1/document
https://hal.science/hal-04795086v1/file/1-s2.0-S1521661624000561-main.pdf
https://doi.org/10.1016/j.clim.2024.110165

المؤلفون: Murillo, Andrea, Marín, Darly, Triviño , Jacobo, Arias, Oriana, Duarte , Diana, Pérez, Paola, Patiño, Jaime, Pachajoa, Harry, Medina, Diego, Franco, Alexis, Olaya-Hernández, Manuela

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

مصطلحات موضوعية: Non-cystic fibrosis bronchiectasis, bronchiectasis, Pediatrics, Inborn error of immunity, Bronquiectasias, Pediatricos, Errores Innatos de la Inmunidad, niños y adolescentes, vacunación, inmunización

وصف الملف: application/pdf

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/7558/5637; https://revistabiomedica.org/index.php/biomedica/article/view/7558

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/7558

المؤلفون: Valerio-Gómez, Valeria, Pérez-Blanco, Uriel, Velázquez-Sámano, Guillermo, Velasco-Medina, Andrea Aida, Albarrán , Antonio, Sánchez, Itzel Yoselin, Berrón-Ruiz, Laura, Espinosa-Padilla, Sara, Blancas-Galicia, Lizbeth

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

مصطلحات موضوعية: Inborn error of immunity, STAT1 Transcription Factor, gain of function, chronic mucocutaneous candidiasis, rosacea, Primary Immunodeficiency Disorders, Tuberculosis, BCG, Error innato de la inmunidad, factor de transcripción STAT1, ganancia de función, candidiasis mucocutánea crónica, rosácea, inmunodeficiencias primarias

وصف الملف: application/pdf

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/7521/5606; https://revistabiomedica.org/index.php/biomedica/article/view/7521

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/7521