Academic literature on the topic 'Common variable immunodeficiency, immunodeficiency, genetics, whole-exome sequencing'
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Journal articles on the topic "Common variable immunodeficiency, immunodeficiency, genetics, whole-exome sequencing"
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 textDissertations / Theses on the topic "Common variable immunodeficiency, immunodeficiency, genetics, whole-exome sequencing"
Lamrini, Hicham. "Identification and characterization of novel molecular causes of primary immunodeficiency : RELA mutations are associated to common variable immunodeficiency and systemic lupus erythematosus." Thesis, Sorbonne Paris Cité, 2018. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2382&f=17275.
Full textBeyond the clinical benefit for diagnosis, the study of patients with primary immunodeficiency (PID) has also largely contributed to the deciphering of the complex molecular mechanisms involved in the human adaptive response against pathogens. Still, a large number of PIDs, especially common variable immunodeficiency (CVID), are genetically not defined. During my thesis, I aimed to identify and characterize novel molecular causes of PIDs based on human natural mutants as a research model (1). By whole-exome sequencing of DNA from patients presenting either with pediatric or familial form of CVID and Systemic Lupus Erythematosus (SLE), we identified three distinct heterozygous single nucleotide variations predicted deleterious in a CVID patient (RELAY306X), a pediatric SLE patient (RELAR329X) and familial SLE patients (RELAH86N). To better understand how the identified mutations may impact the role of RELA in the NF-kB pathway, we confirmed that the two nonsense RELA mutations led to the expression of truncated forms of the protein, while the missense mutation led to the expression of mutated forms of the protein. By immunoblotting of nuclear protein extracts and cellular immunofluorescence, we demonstrated that the two truncated forms of RELA can translocate into the nucleus. Then, using a labeled NF-κB consensus oligonucleotide, we demonstrated that the two truncated forms of RELA were able to bind to DNA. All three mutated RELA proteins, when expressed ectopically, had an impaired transcriptional activity. Finally, we showed by immunoprecipitation that all three ectopically expressed mutated RELA proteins are able to interact with protein partners and form homodimers. As a whole, our results indicate that mutations affecting the transcription factor RELA can be associated with CVID or SLE. Given the previous cases associating RELA haploinsufficiency to autoimmune lymphoproliferative syndrome with autoimmune cytopenia and to TNF-dependent mucocutaneous ulceration and inflammatory intestinal disease, our work widens the spectrum of disease and clinical phenotypes associated with RELA dysfunction and suggests that different RELA mutations lead to different functional consequences
Palterer, Boaz, and Francesco Annunziato. "Genetic Diagnosis of Common Variable Immunodeficiency using Whole-exome Sequencing." Doctoral thesis, 2021. http://hdl.handle.net/2158/1238098.
Full textConference papers on the topic "Common variable immunodeficiency, immunodeficiency, genetics, whole-exome sequencing"
Kassim, Asiah, Adiratna Mat Ripen, Hamidah Ghani, Chai Teng Chear, and Saharuddin Mohamad. "High-Coverage Whole Exome Sequencing Identifies Novel Frameshift Deletion of LRBA Gene in Monozygotic Twin with Common Variable Immunodeficiency." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4228.
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