BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 33679784)

  • 1. Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.
    Papadatou I; Marinakis N; Botsa E; Tzanoudaki M; Kanariou M; Orfanou I; Kanaka-Gantenbein C; Traeger-Synodinos J; Spoulou V
    Front Immunol; 2021; 12():634313. PubMed ID: 33679784
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in
    Somech R; Lev A; Lee YN; Simon AJ; Barel O; Schiby G; Avivi C; Barshack I; Rhodes M; Yin J; Wang M; Yang Y; Rhodes J; Marcus N; Garty BZ; Stein J; Amariglio N; Rechavi G; Wiest DL; Zhang Y
    J Immunol; 2017 Dec; 199(12):4036-4045. PubMed ID: 29127144
    [TBL] [Abstract][Full Text] [Related]  

  • 3. T-cell defects in patients with
    Brigida I; Zoccolillo M; Cicalese MP; Pfajfer L; Barzaghi F; Scala S; Oleaga-Quintas C; Álvarez-Álvarez JA; Sereni L; Giannelli S; Sartirana C; Dionisio F; Pavesi L; Benavides-Nieto M; Basso-Ricci L; Capasso P; Mazzi B; Rosain J; Marcus N; Lee YN; Somech R; Degano M; Raiola G; Caorsi R; Picco P; Moncada Velez M; Khourieh J; Arias AA; Bousfiha A; Issekutz T; Issekutz A; Boisson B; Dobbs K; Villa A; Lombardo A; Neven B; Moshous D; Casanova JL; Franco JL; Notarangelo LD; Scielzo C; Volpi S; Dupré L; Bustamante J; Gattorno M; Aiuti A
    Blood; 2018 Nov; 132(22):2362-2374. PubMed ID: 30254128
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Defective Neutrophil Transendothelial Migration and Lateral Motility in ARPC1B Deficiency Under Flow Conditions.
    Kempers L; Sprenkeler EGG; van Steen ACI; van Buul JD; Kuijpers TW
    Front Immunol; 2021; 12():678030. PubMed ID: 34135903
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
    Chiriaco M; Ursu GM; Amodio D; Cotugno N; Volpi S; Berardinelli F; Pizzi S; Cifaldi C; Zoccolillo M; Prigione I; Di Cesare S; Giancotta C; Anastasio E; Rivalta B; Pacillo L; Zangari P; Fiocchi AG; Diociaiuti A; Bruselles A; Pantaleoni F; Ciolfi A; D'Oria V; Palumbo G; Gattorno M; El Hachem M; de Villartay JP; Finocchi A; Palma P; Rossi P; Tartaglia M; Aiuti A; Antoccia A; Di Matteo G; Cancrini C
    Front Immunol; 2022; 13():919237. PubMed ID: 35967303
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
    Volpi S; Cicalese MP; Tuijnenburg P; Tool ATJ; Cuadrado E; Abu-Halaweh M; Ahanchian H; Alzyoud R; Akdemir ZC; Barzaghi F; Blank A; Boisson B; Bottino C; Brigida I; Caorsi R; Casanova JL; Chiesa S; Chinn IK; Dückers G; Enders A; Erichsen HC; Forbes LR; Gambin T; Gattorno M; Karimiani EG; Giliani S; Gold MS; Jacobsen EM; Jansen MH; King JR; Laxer RM; Lupski JR; Mace E; Marcenaro S; Maroofian R; Meijer AB; Niehues T; Notarangelo LD; Orange J; Pannicke U; Pearson C; Picco P; Quinn PJ; Schulz A; Seeborg F; Stray-Pedersen A; Tawamie H; van Leeuwen EMM; Aiuti A; Yeung R; Schwarz K; Kuijpers TW
    J Allergy Clin Immunol; 2019 Jun; 143(6):2296-2299. PubMed ID: 30771411
    [No Abstract]   [Full Text] [Related]  

  • 7. Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants.
    Zaveleta Martínez O; Fregoso-Zuñiga AE; Razo Requena C; Espinosa Padilla S; Blancas Galicia L
    Iran J Allergy Asthma Immunol; 2024 Feb; 23(1):122-126. PubMed ID: 38485907
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.
    Kopitar AN; Markelj G; Oražem M; Blazina Š; Avčin T; Ihan A; Debeljak M
    Front Immunol; 2019; 10():1632. PubMed ID: 31379835
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
    Suspitsin EN; Guseva MN; Kostik MM; Sokolenko AP; Skripchenko NV; Levina AS; Goleva OV; Dubko MF; Tumakova AV; Makhova MA; Lyazina LV; Bizin IV; Sokolova NE; Gabrusskaya TV; Ditkovskaya LV; Kozlova OP; Vahliarskaya SS; Kondratenko IV; Imyanitov EN
    Clin Genet; 2020 Sep; 98(3):231-239. PubMed ID: 32441320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
    Luo X; Liu Q; Jiang J; Tang W; Ding Y; Zhou L; Yu J; Tang X; An Y; Zhao X
    Front Immunol; 2021; 12():695993. PubMed ID: 34630384
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.
    Broides A; Mandola AB; Levy J; Yerushalmi B; Pinsk V; Eldan M; Shubinsky G; Hadad N; Levy R; Nahum A; Ben-Harosh M; Lev A; Simon A; Somech R
    Immunol Res; 2017 Jun; 65(3):651-657. PubMed ID: 28070732
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity.
    Randzavola LO; Strege K; Juzans M; Asano Y; Stinchcombe JC; Gawden-Bone CM; Seaman MN; Kuijpers TW; Griffiths GM
    J Clin Invest; 2019 Dec; 129(12):5600-5614. PubMed ID: 31710310
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical IRAK4 deficiency caused by homozygosity for the novel
    Jia A; James E; Lu HY; Sharma M; Modi BP; Biggs CM; Hildebrand KJ; Chomyn A; Erdle S; Kular H; Turvey SE
    Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532880
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
    Vásquez-Echeverri E; Yamazaki-Nakashimada MA; Venegas Montoya E; Scheffler Mendoza SC; Castano-Jaramillo LM; Medina-Torres EA; González-Serrano ME; Espinosa-Navarro M; Bustamante Ogando JC; González-Villarreal MG; Ortega Cisneros M; Valencia Mayoral PF; Consuelo Sanchez A; Varela-Fascinetto G; Ramírez-Uribe RMN; Salazar Gálvez Y; Bonifaz Alonzo LC; Fuentes-Pananá EM; Gómez Hernández N; Rojas Maruri CM; Casanova JL; Espinosa-Padilla SE; Staines Boone AT; López-Velázquez G; Boisson B; Lugo Reyes SO
    J Allergy Clin Immunol Pract; 2023 Apr; 11(4):1261-1280.e8. PubMed ID: 36708766
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
    Aljohani AH; Al-Mousa H; Arnaout R; Al-Dhekri H; Mohammed R; Alsum Z; Nicolas-Jilwan M; Alrogi F; Al-Muhsen S; Alazami AM; Al-Saud B
    J Clin Immunol; 2020 Nov; 40(8):1103-1110. PubMed ID: 32851577
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel Germline Heterozygous
    Lu HY; Sertori R; Contreras AV; Hamer M; Messing M; Del Bel KL; Lopez-Rangel E; Chan ES; Rehmus W; Milner JD; McNagny KM; Lehman A; Wiest DL; Turvey SE
    Front Immunol; 2021; 12():788278. PubMed ID: 34887873
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
    Kahr WH; Pluthero FG; Elkadri A; Warner N; Drobac M; Chen CH; Lo RW; Li L; Li R; Li Q; Thoeni C; Pan J; Leung G; Lara-Corrales I; Murchie R; Cutz E; Laxer RM; Upton J; Roifman CM; Yeung RS; Brumell JH; Muise AM
    Nat Commun; 2017 Apr; 8():14816. PubMed ID: 28368018
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in
    Klemann C; Camacho-Ordonez N; Yang L; Eskandarian Z; Rojas-Restrepo JL; Frede N; Bulashevska A; Heeg M; Al-Ddafari MS; Premm J; Seidl M; Ammann S; Sherkat R; Radhakrishnan N; Warnatz K; Unger S; Kobbe R; Hüfner A; Leahy TR; Ip W; Burns SO; Fliegauf M; Grimbacher B
    Front Immunol; 2019; 10():297. PubMed ID: 30941118
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
    Kuijpers TW; Tool ATJ; van der Bijl I; de Boer M; van Houdt M; de Cuyper IM; Roos D; van Alphen F; van Leeuwen K; Cambridge EL; Arends MJ; Dougan G; Clare S; Ramirez-Solis R; Pals ST; Adams DJ; Meijer AB; van den Berg TK
    J Allergy Clin Immunol; 2017 Jul; 140(1):273-277.e10. PubMed ID: 27965109
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel
    Aminorroaya A; Rayzan E; Shahkarami S; Seyedpour S; Zoghi S; Aryan Z; Somekh I; Rohlfs M; Klein C; Esmaeilzadeh H; Rezaei N
    Endocr Metab Immune Disord Drug Targets; 2023; 23(3):410-415. PubMed ID: 35996251
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.