Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 75 Records) |
Query Trace: Primary immunodeficiency[original query] |
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Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity. International archives of allergy and immunology 2020 7 181 (9): 706-714. Asgardoon Mohammad Hossein, Azizi Gholamreza, Yazdani Reza, Sohani Mahsa, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Salami Fereshte, Jamee Mahnaz, Rasouli Seyed Erfan, Mohammadi Javad, Hassanpour Gholamreza, Tavakol Marziyeh, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Behniafard Nasrin, Nabavi Mohammad, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Alyasin Soheila, Jabbari-Azad Farahzad, Ghaffari Javad, Mesdaghi Mehrnaz, Ahanchian Hamid, Khoshkhui Maryam, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Nasiri Kalmarzi Rasoul, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Fallahpour Morteza, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahimi Haji-Abadi Maziyar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Delavari Samaneh, Shirmast Paniz, Babaha Fateme, Samavat Ashraf, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 2020 6 583 (7814): 90-95. Thaventhiran James E D, Lango Allen Hana, Burren Oliver S, Rae William, Greene Daniel, Staples Emily, Zhang Zinan, Farmery James H R, Simeoni Ilenia, Rivers Elizabeth, Maimaris Jesmeen, Penkett Christopher J, Stephens Jonathan, Deevi Sri V V, Sanchis-Juan Alba, Gleadall Nicholas S, Thomas Moira J, Sargur Ravishankar B, Gordins Pavels, Baxendale Helen E, Brown Matthew, Tuijnenburg Paul, Worth Austen, Hanson Steven, Linger Rachel J, Buckland Matthew S, Rayner-Matthews Paula J, Gilmour Kimberly C, Samarghitean Crina, Seneviratne Suranjith L, Sansom David M, Lynch Andy G, Megy Karyn, Ellinghaus Eva, Ellinghaus David, Jorgensen Silje F, Karlsen Tom H, Stirrups Kathleen E, Cutler Antony J, Kumararatne Dinakantha S, Chandra Anita, Edgar J David M, Herwadkar Archana, Cooper Nichola, Grigoriadou Sofia, Huissoon Aarnoud P, Goddard Sarah, Jolles Stephen, Schuetz Catharina, Boschann Felix, , Lyons Paul A, Hurles Matthew E, Savic Sinisa, Burns Siobhan O, Kuijpers Taco W, Turro Ernest, Ouwehand Willem H, Thrasher Adrian J, Smith Kenneth G |
Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea. Journal of pediatric gastroenterology and nutrition 2020 6 71 (3): 333-339. Uchida Takashi, Suzuki Tasuku, Kikuchi Atsuo, Kakuta Fumihiko, Ishige Takashi, Nakayama Yoshiko, Kanegane Hirokazu, Etani Yuri, Mizuochi Tatsuki, Fujiwara Shin-Ichi, Nambu Ryusuke, Suyama Kazuhide, Tanaka Masanori, Yoden Atsushi, Abukawa Daiki, Sasahara Yoji, Kure Shig |
Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey. Immunological investigations 2020 May 1-9. Ozbek Begum, Tan Cagman, Yaz Ismail, Kosukcu Can, Esenboga Saliha, Cetinkaya P?nar Gur, Cagdas Deniz, Tezcan Ilh |
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. Pediatric pulmonology 2020 Mar . Dogru Deniz, Polat Sanem E, Tan Ça?man, Tezcan ?lhan, Yalç?n S?dd?ka S, Utine Eda, O?uz Berna, Yaz ?smail, Emiralio?lu Nagehan, H?zal Mina, Yalç?n Ebru, Özçelik U?ur, Ça?da? Deniz, Kiper Nur |
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications 2020 Feb 11 (1): 995. Serra Eva Gonçalves, Schwerd Tobias, Moutsianas Loukas, Cavounidis Athena, Fachal Laura, Pandey Sumeet, Kammermeier Jochen, Croft Nicholas M, Posovszky Carsten, Rodrigues Astor, Russell Richard K, Barakat Farah, Auth Marcus K H, Heuschkel Robert, Zilbauer Matthias, Fyderek Krzysztof, Braegger Christian, Travis Simon P, Satsangi Jack, Parkes Miles, Thapar Nikhil, Ferry Helen, Matte Julie C, Gilmour Kimberly C, Wedrychowicz Andrzej, Sullivan Peter, Moore Carmel, Sambrook Jennifer, Ouwehand Willem, Roberts David, Danesh John, Baeumler Toni A, Fulga Tudor A, Carrami Eli M, Ahmed Ahmed, Wilson Rachel, Barrett Jeffrey C, Elkadri Abdul, Griffiths Anne M, , , , , , , Snapper Scott B, Shah Neil, Muise Aleixo M, Wilson David C, Uhlig Holm H, Anderson Carl |
Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine-Derived Complications: A Systematic Review. The journal of allergy and clinical immunology. In practice 2020 2 8 (4): 1371-1386. Fekrvand Saba, Yazdani Reza, Olbrich Peter, Gennery Andrew, Rosenzweig Sergio D, Condino-Neto Antonio, Azizi Gholamreza, Rafiemanesh Hosein, Hassanpour Gholamreza, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
Histocompatibility Complex Status and Mendelian Randomization Analysis in Unsolved Antibody Deficiency. Frontiers in immunology 2020 11 14. Abolhassani Hassan, Lim Che Kang, Aghamohammadi Asghar, Hammarström Lenna |
Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD. Journal of personalized medicine 2020 12 10 (4): . Jezernik Gregor, Mi?eti?-Turk Dušanka, Poto?nik Ur |
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing. Journal of clinical immunology 2020 11 41 (2): 393-413. Arunachalam Arun Kumar, Maddali Madhavi, Aboobacker Fouzia N, Korula Anu, George Biju, Mathews Vikram, Edison Eunice Sindhu |
Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. Immunological investigations 2020 11 51 (2): 381-394. Salami Fereshte, Fekrvand Saba, Yazdani Reza, Shahkarami Sepideh, Azizi Gholamreza, Bagheri Yasser, Delavari Samaneh, Shariati Sahar, Mahdaviani Seyed Alireza, Nabavi Mohammamd, Shirkani Afshin, Abolhassani Hassan, Samadi Morteza, Aghamohammadi Asgh |
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase ? Syndrome from the USIDNET Cohort. The journal of allergy and clinical immunology. In practice 2021 8 9 (11): 4095-4102. Oh Jessica, Garabedian Elizabeth, Fuleihan Ramsay, Cunningham-Rundles Charlot |
TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece. Medicina (Kaunas, Lithuania) 2021 8 57 (8): . Kakkas Ioannis, Tsinti Gerasimina, Kalala Fani, Farmaki Evangelia, Kourakli Alexandra, Kapousouzi Androniki, Dimou Maria, Kalaitzidou Vassiliki, Sevdali Eirini, Peristeri Athanasia-Marina, Tsiouma Georgia, Patiou Peristera, Papadimitriou Eleni, Vassilakopoulos Theodoros P, Panayiotidis Panayiotis, Kioumi Anna, Symeonidis Argiris, Speletas Matthai |
Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X-linked Thrombocytopenia-A single center study. Immunological investigations 2021 6 51 (5): 1272-1283. Bildik Hacer Neslihan, Cagdas Deniz, Ozturk Kura Aysenur, Oskay Halacli Sevil, Sanal Ozden, Tezcan Ilh |
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders. Clinical reviews in allergy & immunology 2021 4 61 (2): 226-235. Ameratunga Rohan, Allan Caroline, Lehnert Klaus, Woon See-Ta |
Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients. Scientific reports 2021 Apr 11 (1): 8893. Shin Sang-Yong, Lee Hyeonah, Lee Seung-Tae, Choi Jong Rak, Jung Chul Won, Koo Hong Hoe, Kim Sun-H |
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population. Frontiers in immunology 2021 10 12 695993. Luo Xianze, Liu Qing, Jiang Jinqiu, Tang Wenjing, Ding Yuan, Zhou Lina, Yu Jie, Tang Xuemei, An Yunfei, Zhao Xiaodo |
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-? (PI3K?) Syndrome (APDS). Immunological investigations 2021 1 51 (3): 644-659. Fekrvand Saba, Delavari Samaneh, Chavoshzadeh Zahra, Sherkat Roya, Mahdaviani Seyed Alireza, Sadeghi Shabestari Mahnaz, Azizi Gholamreza, Arzanian Mohammad Taghi, Shahin Shamsian Bibi, Eskandarzadeh Shabnam, Eslami Narges, Rae William, Condino-Neto Antonio, Mohammadi Javad, Abolhassani Hassan, Yazdani Reza, Aghamohammadi Asgh |
Integration of genomic variants and bioinformatic-based approach to drive drug repurposing for multiple sclerosis. Biochemistry and biophysics reports 2022 9 32 101337. Afief Arief Rahman, Irham Lalu Muhammad, Adikusuma Wirawan, Perwitasari Dyah Aryani, Brahmadhi Ageng, Cheung Roc |
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity. Frontiers in cellular and infection microbiology 2022 12 888582. Liu Panhong, Fang Mingyan, Luo Yuxue, Zheng Fang, Jin Yan, Cheng Fanjun, Zhu Huanhuan, Jin X |
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes.
Genome medicine 2022 3 14 (1): 28. Caron Barthelemy, Patin Etienne, Rotival Maxime, Charbit Bruno, Albert Matthew L, Quintana-Murci Lluis, Duffy Darragh, Rausell Antonio, |
Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous. The Journal of allergy and clinical immunology 2022 12 . Wu Chao-Yi, Fan Wen-Lang, Yang Huang-Yu, Chu Pi-Shuang, Liao Pei-Chun, Chen Li-Chen, Yao Tsung-Chieh, Yeh Kuo-Wei, Ou Liang-Shiou, Lin Syh-Jae, Lee Wen-I, Huang Jing-Lo |
Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia. Frontiers in immunology 2022 1 12 786538. Sasahara Yoji, Uchida Takashi, Suzuki Tasuku, Abukawa Dai |
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients. Italian journal of pediatrics 2023 8 49 (1): 95. Irum Gul, Taj Ali Khan, Noor Ul Akbar, Naila Gul, Rehman Ali, Shahid Niaz Kh |
COVID-19 severity: does the genetic landscape of rare variants matter? Frontiers in genetics 2023 7 14 1152768. Maryam B Khadzhieva, Alesya S Gracheva, Olesya B Belopolskaya, Dmitry S Kolobkov, Darya A Kashatnikova, Ivan V Redkin, Artem N Kuzovlev, Andrey V Grechko, Lyubov E Salniko |
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease. Journal of clinical immunology 2023 5 . Wen-I Lee, Chien-Chang Chen, Shih-Hsiang Chen, Wan-Tz Lai, Tang-Her Jaing, Liang-Shiou Ou, Chi-Jou Liang, Chen-Chen Kang, Jing-Long Hua |
Prevalence of CFTR variants in PID patients with bronchiectasis - an important modifying co-factor. The Journal of allergy and clinical immunology 2023 2 . Lawless Dylan, Allen Hana Lango, Thaventhiran James E D, Goddard Sarah, Burren Oliver S, Robson Evie, , Peckham Daniel, Smith Kenneth G C, Savic Sini |
Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2. Frontiers in immunology 2023 2 14 1014150. Peng Qi, Luo Dong, Yang Yi, Zhu Yinghua, Luo Qingming, Chen Huan, Chen Dapeng, Zhou Zhongjun, Lu Xiaom |
CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation. Military medicine 2023 12 . Joseph Baxter, Aubri Wate |
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study. Journal of clinical immunology 2023 1 . Zeng Yuyuan, Ying Wenjing, Wang Wenjie, Hou Jia, Liu Luyao, Sun Bijun, Hui Xiaoying, Gu Yu, Song Xiaoyu, Wang Xiaochuan, Sun Jinqi |
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- Page last updated:Apr 22, 2024
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