214 related articles for article (PubMed ID: 36571238)
1. Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.
Liu A; Liu Q; Leng S; Zhang X; Feng Q; Peng J; Feng G
Clin Exp Immunol; 2023 Mar; 211(1):68-77. PubMed ID: 36571238
[TBL] [Abstract][Full Text] [Related]
2. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P; Lango Allen H; Burns SO; Greene D; Jansen MH; Staples E; Stephens J; Carss KJ; Biasci D; Baxendale H; Thomas M; Chandra A; Kiani-Alikhan S; Longhurst HJ; Seneviratne SL; Oksenhendler E; Simeoni I; de Bree GJ; Tool ATJ; van Leeuwen EMM; Ebberink EHTM; Meijer AB; Tuna S; Whitehorn D; Brown M; Turro E; Thrasher AJ; Smith KGC; Thaventhiran JE; Kuijpers TW;
J Allergy Clin Immunol; 2018 Oct; 142(4):1285-1296. PubMed ID: 29477724
[TBL] [Abstract][Full Text] [Related]
3. A Pathogenic Missense Variant in
Fliegauf M; Krüger R; Steiner S; Hanitsch LG; Büchel S; Wahn V; von Bernuth H; Grimbacher B
Front Immunol; 2021; 12():621503. PubMed ID: 33995346
[TBL] [Abstract][Full Text] [Related]
4. Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Li R; Zheng Y; Li Y; Zhang R; Wang F; Yang D; Ma Y; Mu X; Cao Z; Gao Z
Biomed Res Int; 2018; 2018():3724630. PubMed ID: 30363934
[TBL] [Abstract][Full Text] [Related]
5. Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.
Kutukculer N; Gulez N; Karaca NE; Aksu G; Berdeli A
J Clin Immunol; 2012 Dec; 32(6):1165-79. PubMed ID: 22699762
[TBL] [Abstract][Full Text] [Related]
6. Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G; Esteve-Solé A; Piquer M; González-Navarro EA; Hernandez-Rodriguez J; Laayouni H; González-Roca E; Plaza-Martin AM; Deyà-Martínez Á; Martín-Nalda A; Martínez-Gallo M; García-Prat M; Del Pino-Molina L; Cuscó I; Codina-Solà M; Batlle-Masó L; Solís-Moruno M; Marquès-Bonet T; Bosch E; López-Granados E; Aróstegui JI; Soler-Palacín P; Colobran R; Yagüe J; Alsina L; Juan M; Casals F
Front Immunol; 2018; 9():636. PubMed ID: 29867916
[TBL] [Abstract][Full Text] [Related]
7. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Fliegauf M; Bryant VL; Frede N; Slade C; Woon ST; Lehnert K; Winzer S; Bulashevska A; Scerri T; Leung E; Jordan A; Keller B; de Vries E; Cao H; Yang F; Schäffer AA; Warnatz K; Browett P; Douglass J; Ameratunga RV; van der Meer JW; Grimbacher B
Am J Hum Genet; 2015 Sep; 97(3):389-403. PubMed ID: 26279205
[TBL] [Abstract][Full Text] [Related]
8. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
Keller MD; Pandey R; Li D; Glessner J; Tian L; Henrickson SE; Chinn IK; Monaco-Shawver L; Heimall J; Hou C; Otieno FG; Jyonouchi S; Calabrese L; van Montfrans J; Orange JS; Hakonarson H
J Allergy Clin Immunol; 2016 Aug; 138(2):544-550.e4. PubMed ID: 27016798
[TBL] [Abstract][Full Text] [Related]
9. Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J; Lei WT; Zhang P; Rapaport F; Seeleuthner Y; Lyu B; Asano T; Rosain J; Hammadi B; Zhang Y; Pelham SJ; Spaan AN; Migaud M; Hum D; Bigio B; Chrabieh M; Béziat V; Bustamante J; Zhang SY; Jouanguy E; Boisson-Dupuis S; El Baghdadi J; Aimanianda V; Thoma K; Fliegauf M; Grimbacher B; Korganow AS; Saunders C; Rao VK; Uzel G; Freeman AF; Holland SM; Su HC; Cunningham-Rundles C; Fieschi C; Abel L; Puel A; Cobat A; Casanova JL; Zhang Q; Boisson B
J Exp Med; 2021 Nov; 218(11):. PubMed ID: 34473196
[TBL] [Abstract][Full Text] [Related]
10. Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.
Ricci S; Abu-Rumeileh S; Campagna N; Barbati F; Stagi S; Canessa C; Lodi L; Palterer B; Maggi L; Matucci A; Vultaggio A; Annunziato F; Azzari C
Front Immunol; 2023; 14():1224603. PubMed ID: 37600787
[TBL] [Abstract][Full Text] [Related]
11. Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA; Kuismin O; Soikkonen L; Martelius T; Kaustio M; Hämäläinen S; Viskari H; Syrjänen J; Wartiovaara-Kautto U; Eklund KK; Saarela J; Varjosalo M; Kere J; Hautala T; Seppänen MRJ
Clin Immunol; 2023 Jan; 246():109181. PubMed ID: 36356849
[TBL] [Abstract][Full Text] [Related]
12. Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous
Staels F; De Keukeleere K; Kinnunen M; Keskitalo S; Lorenzetti F; Vanmeert M; Prezzemolo T; Pasciuto E; Lescrinier E; Bossuyt X; Gerbaux M; Willemsen M; Neumann J; Van Loo S; Corveleyn A; Willekens K; Stalmans I; Meyts I; Liston A; Humblet-Baron S; Seppänen M; Varjosalo M; Schrijvers R
Front Immunol; 2022; 13():973543. PubMed ID: 36203612
[TBL] [Abstract][Full Text] [Related]
13. Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders.
Pecoraro A; Crescenzi L; Varricchi G; Marone G; Spadaro G
Front Immunol; 2020; 11():338. PubMed ID: 32184784
[TBL] [Abstract][Full Text] [Related]
14. Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders.
Ameratunga R; Ahn Y; Jordan A; Lehnert K; Brothers S; Woon ST
Expert Rev Clin Immunol; 2018 Jul; 14(7):549-556. PubMed ID: 29806948
[TBL] [Abstract][Full Text] [Related]
15. Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in
Anim M; Sogkas G; Schmidt G; Dubrowinskaja N; Witte T; Schmidt RE; Atschekzei F
Front Immunol; 2021; 12():767188. PubMed ID: 35003082
[TBL] [Abstract][Full Text] [Related]
16. Detrimental
Fliegauf M; Kinnunen M; Posadas-Cantera S; Camacho-Ordonez N; Abolhassani H; Alsina L; Atschekzei F; Bogaert DJ; Burns SO; Church JA; Dückers G; Freeman AF; Hammarström L; Hanitsch LG; Kerre T; Kobbe R; Sharapova SO; Siepermann K; Speckmann C; Steiner S; Verma N; Walter JE; Westermann-Clark E; Goldacker S; Warnatz K; Varjosalo M; Grimbacher B
Front Immunol; 2022; 13():965326. PubMed ID: 36105815
[TBL] [Abstract][Full Text] [Related]
17. Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency.
Warnatz K; Bossaller L; Salzer U; Skrabl-Baumgartner A; Schwinger W; van der Burg M; van Dongen JJ; Orlowska-Volk M; Knoth R; Durandy A; Draeger R; Schlesier M; Peter HH; Grimbacher B
Blood; 2006 Apr; 107(8):3045-52. PubMed ID: 16384931
[TBL] [Abstract][Full Text] [Related]
18. Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.
Sathkumara HD; De Silva NR; Handunnetti S; De Silva AD
Int J Immunogenet; 2015 Aug; 42(4):239-53. PubMed ID: 26096648
[TBL] [Abstract][Full Text] [Related]
19. Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
Abolhassani H; El-Sherbiny YM; Arumugakani G; Carter C; Richards S; Lawless D; Wood P; Buckland M; Heydarzadeh M; Aghamohammadi A; Hambleton S; Hammarström L; Burns SO; Doffinger R; Savic S
J Clin Immunol; 2020 Feb; 40(2):277-288. PubMed ID: 31858365
[TBL] [Abstract][Full Text] [Related]
20. Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.
Bacchelli C; Buckridge S; Thrasher AJ; Gaspar HB
Clin Exp Immunol; 2007 Sep; 149(3):401-9. PubMed ID: 17697196
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
