HuGE Literature Finder
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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 |
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 |
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 |
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Frontiers in immunology 2016 7 220. Maffucci Patrick, Filion Charles A, Boisson Bertrand, Itan Yuval, Shang Lei, Casanova Jean-Laurent, Cunningham-Rundles Charlot |
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