Journal articles on the topic 'Common variable immunodeficiency, immunodeficiency, genetics, whole-exome sequencing'
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Li, Ran, Yali Zheng, Yuqian Li, Rongbao Zhang, Fang Wang, Donghong Yang, Yanliang Ma, Xinlin Mu, Zhaolong Cao, and Zhancheng Gao. "Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing." BioMed Research International 2018 (September 30, 2018): 1–7. http://dx.doi.org/10.1155/2018/3724630.
Full textLui, Victor, Ryan Baxter, John Michael Routes, James Verbsky, and Elena WY Hsieh. "Understanding Genetic and Immune Cellular-Signaling Defects in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease." Journal of Immunology 204, no. 1_Supplement (May 1, 2020): 146.18. http://dx.doi.org/10.4049/jimmunol.204.supp.146.18.
Full textAbolhassani, Hassan, Lennart Hammarström, and Charlotte Cunningham-Rundles. "Current genetic landscape in common variable immune deficiency." Blood 135, no. 9 (February 27, 2020): 656–67. http://dx.doi.org/10.1182/blood.2019000929.
Full textKeller, Michael, Joseph Glessner, Hakon Hakonarson, and Jordan Orange. "IFR2BP2 Mutations Identified As a Novel Genetic Cause of Familial Common Variable Immunodeficiency Identified Via Support Vector Algorithm and Whole Exome Sequencing." Journal of Allergy and Clinical Immunology 131, no. 2 (February 2013): AB140. http://dx.doi.org/10.1016/j.jaci.2012.12.1163.
Full textRusso, Roberta, Immacolata Andolfo, Vito Alessandro Lasorsa, Sueva Cantalupo, Roberta Marra, Giulia Frisso, Pasquale Abete, et al. "The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy." Genes 12, no. 6 (June 8, 2021): 881. http://dx.doi.org/10.3390/genes12060881.
Full textNasomyont, Nat, Andrew W. Lindsley, Amal Assa'ad, D. Brian Dawson, Derek E. Neilson, Cassandra C. Brady, and Meilan M. Rutter. "Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome." Journal of Clinical Endocrinology & Metabolism 104, no. 9 (May 31, 2019): 4051–57. http://dx.doi.org/10.1210/jc.2019-00469.
Full textMandola, Amarilla B., and Nigel Sharfe. "Novel heterozygous NFKB1 mutation—variable penetrance in a family cohort." LymphoSign Journal 6, no. 3 (September 1, 2019): 95–105. http://dx.doi.org/10.14785/lymphosign-2019-0010.
Full textRolles, Benjamin, Alla Bulashevska, Michele Proietti, Sigune Goldacker, Klaus Warnatz, Nadezhda Camacho-Ordonez, Margherita Vieri, et al. "Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita." Blood 134, Supplement_1 (November 13, 2019): 1217. http://dx.doi.org/10.1182/blood-2019-128915.
Full textSviridov, Philipp S., Natalia A. Bodunova, Anastasiia M. Danishevich, and Mariia M. Litvinova. "TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report." Terapevticheskii arkhiv 93, no. 12 (December 15, 2021): 1522–27. http://dx.doi.org/10.26442/00403660.2021.12.201176.
Full textMat Ripen, Adiratna, Hamidah Ghani, Chai Teng Chear, Mei Yee Chiow, Sharifah Nurul Husna Syed Yahya, Asiah Kassim, and Saharuddin Bin Mohamad. "Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency." SAGE Open Medicine 8 (January 2020): 205031212092265. http://dx.doi.org/10.1177/2050312120922652.
Full textLal, Rayhan A., Laura K. Bachrach, Andrew R. Hoffman, Jingga Inlora, Shannon Rego, Michael P. Snyder, and David B. Lewis. "A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation." Journal of Clinical Endocrinology & Metabolism 102, no. 7 (May 3, 2017): 2127–30. http://dx.doi.org/10.1210/jc.2017-00341.
Full textHill, Adrian V. S. "Evolution, revolution and heresy in the genetics of infectious disease susceptibility." Philosophical Transactions of the Royal Society B: Biological Sciences 367, no. 1590 (March 19, 2012): 840–49. http://dx.doi.org/10.1098/rstb.2011.0275.
Full textAbolhassani, Hassan, Yasser M. El-Sherbiny, Gururaj Arumugakani, Clive Carter, Stephen Richards, Dylan Lawless, Philip Wood, et al. "Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency." Journal of Clinical Immunology 40, no. 2 (December 20, 2019): 277–88. http://dx.doi.org/10.1007/s10875-019-00735-z.
Full textBarua, Subit, Sara Berger, Elaine M. Pereira, and Vaidehi Jobanputra. "Expanding the phenotype of ATP6AP1 deficiency." Molecular Case Studies 8, no. 4 (June 2022): a006195. http://dx.doi.org/10.1101/mcs.a006195.
Full textWong, Jasper, Brett Collinge, Laura K. Hilton, Susana Ben-Neriah, Graham W. Slack, Pedro Farinha, James R. Cook, et al. "The Genomic Landscape of Plasmablastic Lymphoma (PBL) - an L.L.M.P.P. Project." Blood 138, Supplement 1 (November 5, 2021): 1326. http://dx.doi.org/10.1182/blood-2021-153441.
Full textMaffucci, Patrick, Charles A. Filion, Bertrand Boisson, Yuval Itan, Lei Shang, Jean-Laurent Casanova, and Charlotte Cunningham-Rundles. "Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency." Frontiers in Immunology 7 (June 13, 2016). http://dx.doi.org/10.3389/fimmu.2016.00220.
Full textRen, Yanling, Feng Xiao, Fei Cheng, Xin Huang, Jianhu Li, Xiaogang Wang, Wei Lang, Xinping Zhou, Jianping Lan, and Hongyan Tong. "Whole exome sequencing reveals a novel LRBA mutation and clonal hematopoiesis in a common variable immunodeficiency patient presented with hemophagocytic lymphohistiocytosis." Experimental Hematology & Oncology 10, no. 1 (June 13, 2021). http://dx.doi.org/10.1186/s40164-021-00229-y.
Full textLiu, Anli, Qiang Liu, Shaoqiu Leng, Xiaoyu Zhang, Qi Feng, Jun Peng, and Gege Feng. "Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID." Clinical and Experimental Immunology, December 26, 2022. http://dx.doi.org/10.1093/cei/uxac121.
Full textBruns, Luzia, Victoria Panagiota, Sandra von Hardenberg, Gunnar Schmidt, Ignatius Ryan Adriawan, Eleni Sogka, Stefanie Hirsch, et al. "Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors." Frontiers in Immunology 13 (February 17, 2022). http://dx.doi.org/10.3389/fimmu.2022.742530.
Full textMalik, Aniko, Elizabeth Stringer, Neil Warner, Johan van Limbergen, Anthony Vandersteen, Aleixo Muise, and Beata Derfalvi. "Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity." Pediatrics 148, no. 5 (November 1, 2021). http://dx.doi.org/10.1542/peds.2021-050614.
Full textSchmidt, Axel, Sophia Peters, Alexej Knaus, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, et al. "TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19." npj Genomic Medicine 6, no. 1 (July 1, 2021). http://dx.doi.org/10.1038/s41525-021-00220-w.
Full textPernaa, Nora, Salla Keskitalo, Iftekhar Chowdhury, Antti Nissinen, Virpi Glumoff, Riikka Keski-Filppula, Juhani Junttila, et al. "Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity." Frontiers in Immunology 13 (November 18, 2022). http://dx.doi.org/10.3389/fimmu.2022.819929.
Full textTafaroji, Javad, Pouya Mahdavi Sharif, Saeed Karimi, and Ali Reza Sharifi. "Comparison of Clinical Manifestations, Immunological Analyses Between LRBA and CVID Patients: A Longitudinal Study." Immunology and Genetics Journal, January 18, 2022. http://dx.doi.org/10.18502/igj.v4i1.8393.
Full textFrohne, Alexandra, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, et al. "A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation." Human Genetics, November 29, 2022. http://dx.doi.org/10.1007/s00439-022-02506-0.
Full textNakano, Tomohiro, Yoji Sasahara, Atsuo Kikuchi, Kunihiko Moriya, Hidetaka Niizuma, Tetsuya Niihori, Matsuyuki Shirota, et al. "Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus." Journal of Medical Genetics, May 9, 2022, jmedgenet—2021–108300. http://dx.doi.org/10.1136/jmedgenet-2021-108300.
Full textTofighi Zavareh, Farzaneh, Yasser Bagheri, and Abbas Ali Keshtkar. "Evaluation of B cell and T cell Phenotypes in CVID Patients and its Correlation with the Clinical Phenotypes: Study Protocol." Immunology and Genetics Journal, October 13, 2021. http://dx.doi.org/10.18502/igj.v3i4.7464.
Full textLi, Niu, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, et al. "Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture." Orphanet Journal of Rare Diseases 14, no. 1 (November 21, 2019). http://dx.doi.org/10.1186/s13023-019-1241-z.
Full textLuterbacher, Fanny, Fanette Bernard, Frédéric Baleydier, Emmanuelle Ranza, Peter Jandus, and Geraldine Blanchard-Rohner. "Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT." Frontiers in Immunology 12 (December 22, 2021). http://dx.doi.org/10.3389/fimmu.2021.773853.
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