BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 34044499)

  • 1. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset.
    Karagüzel G; Polat R; Abul MH; Cebi AH; Orhan F
    J Clin Res Pediatr Endocrinol; 2022 Aug; 14(3):361-365. PubMed ID: 34044499
    [TBL] [Abstract][Full Text] [Related]  

  • 2. IPEX syndrome from diagnosis to cure, learning along the way.
    Bacchetta R; Roncarolo MG
    J Allergy Clin Immunol; 2024 Mar; 153(3):595-605. PubMed ID: 38040040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
    Kirchner A; Sanchez IM; Zalan A; Bhat G; Bain M
    Pediatr Dermatol; 2022 May; 39(3):483-485. PubMed ID: 35191551
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
    Gambineri E; Perroni L; Passerini L; Bianchi L; Doglioni C; Meschi F; Bonfanti R; Sznajer Y; Tommasini A; Lawitschka A; Junker A; Dunstheimer D; Heidemann PH; Cazzola G; Cipolli M; Friedrich W; Janic D; Azzi N; Richmond E; Vignola S; Barabino A; Chiumello G; Azzari C; Roncarolo MG; Bacchetta R
    J Allergy Clin Immunol; 2008 Dec; 122(6):1105-1112.e1. PubMed ID: 18951619
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.
    Verbsky JW; Chatila TA
    Curr Opin Pediatr; 2013 Dec; 25(6):708-14. PubMed ID: 24240290
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.
    Seghezzo S; Bleesing JJ; Kucuk ZY
    J Pediatr; 2017 Jul; 186():183-185. PubMed ID: 28457527
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.
    Huang Y; Fang S; Zeng T; Chen J; Yang L; Sun G; Dai R; An Y; Tang X; Dou Y; Zhao X; Zhou L
    Front Immunol; 2022; 13():972746. PubMed ID: 36091011
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).
    Kylat RI; Stanley K; Simon S; Erickson RP
    J Appl Genet; 2023 Feb; 64(1):141-144. PubMed ID: 36175752
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
    Huang Q; Liu X; Zhang Y; Huang J; Li D; Li B
    J Genet Genomics; 2020 Jan; 47(1):17-26. PubMed ID: 32081609
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial IPEX syndrome: different glomerulopathy in two siblings.
    Park E; Chang HJ; Shin JI; Lim BJ; Jeong HJ; Lee KB; Moon KC; Kang HG; Ha IS; Cheong HI
    Pediatr Int; 2015 Apr; 57(2):e59-61. PubMed ID: 25712815
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.
    Park JH; Lee KH; Jeon B; Ochs HD; Lee JS; Gee HY; Seo S; Geum D; Piccirillo CA; Eisenhut M; van der Vliet HJ; Lee JM; Kronbichler A; Ko Y; Shin JI
    Autoimmun Rev; 2020 Jun; 19(6):102526. PubMed ID: 32234571
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of Metaplastic atrophic gastritis in immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome.
    Luo Y; Chen J; Fang Y; Lou J; Yu J
    BMC Pediatr; 2018 Jun; 18(1):191. PubMed ID: 29907148
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.
    Duclaux-Loras R; Charbit-Henrion F; Neven B; Nowak J; Collardeau-Frachon S; Malcus C; Ray PF; Moshous D; Beltrand J; Goulet O; Cerf-Bensussan N; Lachaux A; Rieux-Laucat F; Ruemmele FM
    Clin Transl Gastroenterol; 2018 Nov; 9(10):201. PubMed ID: 30385752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
    Uzel G; Sampaio EP; Lawrence MG; Hsu AP; Hackett M; Dorsey MJ; Noel RJ; Verbsky JW; Freeman AF; Janssen E; Bonilla FA; Pechacek J; Chandrasekaran P; Browne SK; Agharahimi A; Gharib AM; Mannurita SC; Yim JJ; Gambineri E; Torgerson T; Tran DQ; Milner JD; Holland SM
    J Allergy Clin Immunol; 2013 Jun; 131(6):1611-23. PubMed ID: 23534974
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene].
    Zheng C; Meng Y; Deng Z; Liu J; Yan G; Huang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):181-186. PubMed ID: 38311556
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
    d'Hennezel E; Bin Dhuban K; Torgerson T; Piccirillo CA
    J Med Genet; 2012 May; 49(5):291-302. PubMed ID: 22581967
    [TBL] [Abstract][Full Text] [Related]  

  • 17. From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.
    Bacchetta R; Barzaghi F; Roncarolo MG
    Ann N Y Acad Sci; 2018 Apr; 1417(1):5-22. PubMed ID: 26918796
    [TBL] [Abstract][Full Text] [Related]  

  • 18. IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
    Ochs HD; Gambineri E; Torgerson TR
    Immunol Res; 2007; 38(1-3):112-21. PubMed ID: 17917016
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.
    Zhang Y; Liu H; Ai T; Xia W; Chen T; Zhang L; Luo X; Duan Y
    Medicine (Baltimore); 2021 Mar; 100(12):e25174. PubMed ID: 33761697
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
    Gambineri E; Ciullini Mannurita S; Hagin D; Vignoli M; Anover-Sombke S; DeBoer S; Segundo GRS; Allenspach EJ; Favre C; Ochs HD; Torgerson TR
    Front Immunol; 2018; 9():2411. PubMed ID: 30443250
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.