BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 35784294)

  • 1. Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
    Franco-Jarava C; Valenzuela I; Riviere JG; Garcia-Prat M; Martínez-Gallo M; Dieli-Crimi R; Castells N; Batlle-Masó L; Soler-Palacin P; Colobran R
    Front Immunol; 2022; 13():897975. PubMed ID: 35784294
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
    Dieli-Crimi R; Martínez-Gallo M; Franco-Jarava C; Antolin M; Blasco L; Paramonov I; Semidey ME; Álvarez Fernández A; Molero X; Velásquez J; Martín-Nalda A; Pujol-Borrell R; Colobran R
    Clin Immunol; 2018 Oct; 195():49-58. PubMed ID: 30063981
    [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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. [Genetic basis of common variable immunodeficiency: from common to variable].
    Allaoui A; Mokhantar K; Jeddane L; Dehbi H; Ailal F; Bousfiha AA; Elkabli H; Moudatir M
    Ann Biol Clin (Paris); 2021 Oct; 79(5):407-413. PubMed ID: 34704938
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
    Bogaert DJ; Dullaers M; Lambrecht BN; Vermaelen KY; De Baere E; Haerynck F
    J Med Genet; 2016 Sep; 53(9):575-90. PubMed ID: 27250108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.
    Fusaro M; Coustal C; Barnabei L; Riller Q; Heller M; Ho Nhat D; Fourrage C; Rivière S; Rieux-Laucat F; Maria ATJ; Picard C
    Clin Immunol; 2024 Apr; 261():110165. PubMed ID: 38423196
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
    Labrador-Horrillo M; Franco-Jarava C; Garcia-Prat M; Parra-Martínez A; Antolín M; Salgado-Perandrés S; Aguiló-Cucurull A; Martinez-Gallo M; Colobran R
    Front Immunol; 2022; 13():881206. PubMed ID: 35464398
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Humoral deficiency in three paediatric patients with genetic diseases.
    Calvo Campoverde K; Gean E; Piquer Gibert M; Martinez Valdez L; Deyà-Martínez A; Rojas Volquez M; Esteve-Sole A; Juan M; Plaza AM; Alsina L
    Allergol Immunopathol (Madr); 2016; 44(3):257-62. PubMed ID: 26947896
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.
    Yazdani R; Abolhassani H; Kiaee F; Habibi S; Azizi G; Tavakol M; Chavoshzadeh Z; Mahdaviani SA; Momen T; Gharagozlou M; Movahedi M; Hamidieh AA; Behniafard N; Nabavi M; Bemanian MH; Arshi S; Molatefi R; Sherkat R; Shirkani A; Amin R; Aleyasin S; Faridhosseini R; Jabbari-Azad F; Mohammadzadeh I; Ghaffari J; Shafiei A; Kalantari A; Mansouri M; Mesdaghi M; Babaie D; Ahanchian H; Khoshkhui M; Soheili H; Eslamian MH; Cheraghi T; Dabbaghzadeh A; Tavassoli M; Kalmarzi RN; Mortazavi SH; Kashef S; Esmaeilzadeh H; Tafaroji J; Khalili A; Zandieh F; Sadeghi-Shabestari M; Darougar S; Behmanesh F; Akbari H; Zandkarimi M; Abolnezhadian F; Fayezi A; Moghtaderi M; Ahmadiafshar A; Shakerian B; Sajedi V; Taghvaei B; Safari M; Heidarzadeh M; Ghalebaghi B; Fathi SM; Darabi B; Bazregari S; Bazargan N; Fallahpour M; Khayatzadeh A; Javahertrash N; Bashardoust B; Zamani M; Mohsenzadeh A; Ebrahimi S; Sharafian S; Vosughimotlagh A; Tafakoridelbari M; Rahim M; Ashournia P; Razaghian A; Rezaei A; Samavat A; Mamishi S; Khazaei HA; Mohammadi J; Negahdari B; Parvaneh N; Rezaei N; Lougaris V; Giliani S; Plebani A; Ochs HD; Hammarström L; Aghamohammadi A
    J Allergy Clin Immunol Pract; 2019 Mar; 7(3):864-878.e9. PubMed ID: 30240888
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.
    Romano R; Zaravinos A; Liadaki K; Caridha R; Lundin J; Carlsson G; Winiarski J; Pan-Hammarström Q; Hammarström L
    Clin Immunol; 2017 Mar; 176():71-76. PubMed ID: 28093361
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
    Franco-Jarava C; Wang H; Martin-Nalda A; Alvarez SD; García-Prat M; Bodet D; García-Patos V; Plaja A; Rudilla F; Rodriguez-Sureda V; García-Latorre L; Aksentijevich I; Colobran R; Soler-Palacín P
    Clin Immunol; 2018 Jun; 191():44-51. PubMed ID: 29572183
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.