Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 75 Records) |
| Query Trace: Common Variable Immunodeficiency[original query] |
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| The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. Haematologica 2016 Sep . Bogaert Delfien J A, De Bruyne Marieke, Debacker Veronique, Depuydt Pauline, De Preter Katleen, Bonroy Carolien, Philippe' Jan, Bordon Victoria, Lambrecht Bart N, Kerre Tessa, Cerutti Andrea, Vermaelen Karim Y, Haerynck Filomeen, Dullaers Melis |
| Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. The journal of allergy and clinical immunology. In practice 2018 9 7 (3): 864-878.e9. Yazdani Reza, Abolhassani Hassan, Kiaee Fatemeh, Habibi Sima, Azizi Gholamreza, Tavakol Marzieh, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Gharagozlou Mohammad, Movahedi Masoud, Hamidieh Amir Ali, Behniafard Nasrin, Nabavi Mohammamd, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Amin Reza, Aleyasin Soheila, Faridhosseini Reza, Jabbari-Azad Farahzad, Mohammadzadeh Iraj, Ghaffari Javad, Shafiei Alireza, Kalantari Arash, Mansouri Mahboubeh, Mesdaghi Mehrnaz, Babaie Delara, Ahanchian Hamid, Khoshkhui Maryam, Soheili Habib, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Tavassoli Mahmoud, Kalmarzi Rasoul Nasiri, Mortazavi Seyed Hamidreza, Kashef Sara, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Zandieh Fariborz, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Behmanesh Fatemeh, Akbari Hedayat, Zandkarimi Mohammadreza, Abolnezhadian Farhad, Fayezi Abbas, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Sajedi Vahid, Taghvaei Behrang, Safari Mojgan, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Bazregari Saeed, Bazargan Nasrin, Fallahpour Morteza, Khayatzadeh Alireza, Javahertrash Naser, Bashardoust Bahram, Zamani Mohammadali, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahim Maziar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Samavat Ashraf, Mamishi Setareh, Khazaei Hossein Ali, Mohammadi Javad, Negahdari Babak, Parvaneh Nima, Rezaei Nima, Lougaris Vassilios, Giliani Silvia, Plebani Alessandro, Ochs Hans D, Hammarström Lennart, Aghamohammadi Asgh |
| Pulmonary Manifestations of Common Variable Immunodeficiency. Journal of thoracic imaging 2018 8 33 (6): 377-383. Bang Tami J, Richards John Caleb, Olson Amy L, Groshong Steve D, Gelfand Erwin W, Lynch David |
| TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency. Avicenna journal of medical biotechnology 2018 8 10 (3): 192-195. Karaca Neslihan Edeer, Severcan Ezgi Ulusoy, Guven Burcu, Azarsiz Elif, Aksu Guzide, Kutukculer Nec |
| Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. Frontiers in immunology 2018 6 9 636. de Valles-Ibáñez Guillem, Esteve-Solé Ana, Piquer Mònica, González-Navarro E Azucena, Hernandez-Rodriguez Jessica, Laayouni Hafid, González-Roca Eva, Plaza-Martin Ana María, Deyà-Martínez Ángela, Martín-Nalda Andrea, Martínez-Gallo Mónica, García-Prat Marina, Del Pino-Molina Lucía, Cuscó Ivón, Codina-Solà Marta, Batlle-Masó Laura, Solís-Moruno Manuel, Marquès-Bonet Tomàs, Bosch Elena, López-Granados Eduardo, Aróstegui Juan Ignacio, Soler-Palacín Pere, Colobran Roger, Yagüe Jordi, Alsina Laia, Juan Manel, Casals Ferr |
| Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. The Journal of dermatology 2018 6 46 (1): e24-e26. Nagai Makoto, Imai Yasutomo, Yamanishi Kiyofu |
| The Profile of Toll-like Receptor 2 (TLR2), TLR4 and Their Cytosolic Downstream Signaling Pathway in Common Variable Immunodeficiency (CVID) Patients. Iranian journal of allergy, asthma, and immunology 2018 Apr 17 (2): 188-200. Sharifi Laleh, Aghamohammadi Asghar, Rezaei Nima, Yazdani Reza, Mahmoudi Mahdi, Amiri Mohammad Mehdi, Masoumi Farimah, Bokaie Saied, Tavasolian Parsova, Sanaei Rouzbeh, Moshiri Mona, Tavakolinia Naeimeh, Alinia Tina, Azizi Gholamreza, Mirshafiey Abb |
| Circulating Helper T-Cell Subsets and Regulatory T Cells in Patients With Common Variable Immunodeficiency Without Known Monogenic Disease. Journal of investigational allergology & clinical immunology 2018 1 28 (3): 172-181. Azizi G, Mirshafiey A, Abolhassani H, Yazdani R, Jafarnezhad-Ansariha F, Shaghaghi M, Mortazavi-Jahromi S S, Noorbakhsh F, Rezaei N, Aghamohammadi |
| How to Identify Common Variable Immunodeficiency Patients Earlier: General Practice Patterns. Journal of clinical immunology 2019 8 39 (7): 641-652. Ilkjær Frederik V, Rasmussen Line D, Martin-Iguacel Raquel, Westh Lena, Katzenstein Terese L, Hansen Ann-Brit E, Nielsen Thyge L, Larsen Carsten S, Johansen Isik |
| Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency. Frontiers in pediatrics 2019 4 7 61. Parsons Karyn, Cipriano Sarah D, Rosen Lindsey B, Browne Sarah K, Walter Jolan E, Stone Bryan L, Keeshin Susana, Chen Kar |
| CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. Frontiers in immunology 2019 2 9 3135. Kralickova Pavlina, Milota Tomas, Litzman Jiri, Malkusova Ivana, Jilek Dalibor, Petanova Jitka, Vydlakova Jana, Zimulova Alena, Fronkova Eva, Svaton Michael, Kanderova Veronika, Bloomfield Marketa, Parackova Zuzana, Klocperk Adam, Haviger Jiri, Kalina Tomas, Sediva An |
| NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential. Clinical immunology (Orlando, Fla.) 2019 11 210 108309. De Leo Pasqualina, Gazzurelli Luisa, Baronio Manuela, Montin Davide, Di Cesare Silvia, Giancotta Carmen, Licciardi Francesco, Cancrini Caterina, Aiuti Alessandro, Plebani Alessandro, Cicalese Maria Pia, Lougaris Vassilios, Fousteri Georg |
| Phenotypically defined subpopulations of circulating follicular helper T cells in common variable immunodeficiency. Immunity, inflammation and disease 2020 7 8 (3): 441-446. Yesillik Sait, Gupta Sudh |
| 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 |
| 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 |
| HLA-A and -B Type and Haplotype Frequencies in IgG Subclass Deficiency Subgroups. Archivum immunologiae et therapiae experimentalis 2020 4 68 (3): 14. Barton James C, Barton Jackson C, Bertoli Luigi F, Acton Ronald |
| 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 |
| Somatic mutations and T-cell clonality in patients with immunodeficiency. Haematologica 2020 12 105 (12): 2757-2768. Savola Paula, Martelius Timi, Kankainen Matti, Huuhtanen Jani, Lundgren Sofie, Koski Yrjö, Eldfors Samuli, Kelkka Tiina, Keränen Mikko A I, Ellonen Pekka, Kovanen Panu E, Kytölä Soili, Saarela Janna, Lähdesmäki Harri, Seppänen Mikko R J, Mustjoki Sa |
| 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 |
| Gut Microbiota-Dependent Trimethylamine N-Oxide Associates With Inflammation in Common Variable Immunodeficiency. Frontiers in immunology 2020 11 574500. Macpherson Magnhild E, Hov Johannes R, Ueland Thor, Dahl Tuva B, Kummen Martin, Otterdal Kari, Holm Kristian, Berge Rolf K, Mollnes Tom E, Trøseid Marius, Halvorsen Bente, Aukrust Pål, Fevang Børre, Jørgensen Silje |
| 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 |
| A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell death and differentiation 2021 Jul . Capitani Nagaja, Onnis Anna, Finetti Francesca, Cassioli Chiara, Plebani Alessandro, Brunetti Jlenia, Troilo Arianna, D'Elios Sofia, Baronio Manuela, Gazzurelli Luisa, Della Bella Chiara, Billadeau Daniel D, D'Elios Mario Milco, Lougaris Vassilios, Baldari Cosima |
| TACI deficiency - a complex system out of balance. Current opinion in immunology 2021 7 71 81-88. Salzer Ulrich, Grimbacher Bo |
| 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 |
| The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID). Scientific reports 2021 Apr 11 (1): 8308. Bisgin Atil, Sonmezler Ozge, Boga Ibrahim, Yilmaz Musta |
| Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 3 32 (6): 1335-1348. Azizi Gholamreza, Tavakol Marzieh, Yazdani Reza, Delavari Samaneh, Moeini Shad Tannaz, Rasouli Seyed Erfan, Jamee Mahnaz, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Mohammadi Javad, Hassanpour Gholamreza, 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, Salami Fereshte, Shirmast Paniz, Bazargan Nasrin, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Shokri Sima, Nabavizadeh Seyed Hesamedin, Bazregari Saeed, Ghasemi Ramin, Bayat Shiva, Eshaghi Hamid, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| Response to Severe Acute Respiratory Syndrome Coronavirus 2 Initial Series and Additional Dose Vaccine in Patients With Predominant Antibody Deficiency. The journal of allergy and clinical immunology. In practice 2022 4 10 (6): 1622-1634.e4. Barmettler Sara, DiGiacomo Daniel V, Yang Nancy J, Lam Tiffany, Naranbhai Vivek, Dighe Anand S, Burke Kristin E, Blumenthal Kimberly G, Ling Morris, Hesterberg Paul E, Saff Rebecca R, MacLean James, Ofoman Onosereme, Berrios Cristhian, St Denis Kerri J, Lam Evan C, Gregory David, Iafrate Anthony John, Poznansky Mark, Lee Hang, Balazs Alejandro, Pillai Shiv, Farmer Jocelyn |
| Ligand-independent oligomerization of TACI is controlled by the transmembrane domain and regulates proliferation of activated B cells. Cell reports 2022 3 38 (13): 110583. Smulski Cristian R, Zhang Luyao, Burek Malte, Teixidó Rubio Ariadna, Briem Jana-Susann, Sica Mauricio P, Sevdali Eirini, Vigolo Michele, Willen Laure, Odermatt Patricia, Istanbullu Duygu, Herr Stephanie, Cavallari Marco, Hess Henry, Rizzi Marta, Eibel Hermann, Schneider Pasc |
| Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clinical immunology (Orlando, Fla.) 2022 11 246 109181. Tuovinen Elina A, Kuismin Outi, Soikkonen Leila, Martelius Timi, Kaustio Meri, Hämäläinen Sari, Viskari Hanna, Syrjänen Jaana, Wartiovaara-Kautto Ulla, Eklund Kari K, Saarela Janna, Varjosalo Markku, Kere Juha, Hautala Timo, Seppänen Mikko R |
| Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity. Asia Pacific allergy 2023 6 13 (2): 88-90. Xin Rong Lim, Yi Wye Lai, Choon Guan Chua, Yen Loo Lim, Siong See Joyce Lee, Chia Wei Lim, Yu-Hor Bernard Thong, Wei-Lynn Justina T |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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