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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2001 6
2002 3
2003 5
2004 8
2005 6
2006 19
2007 23
2008 19
2009 21
2010 16
2011 19
2012 18
2013 26
2014 19
2015 21
2016 18
2017 34
2018 32
2019 38
2020 26
2021 2
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335 results
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Page 1
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.
Bacchetta R, Barzaghi F, Roncarolo MG. Bacchetta R, et al. Ann N Y Acad Sci. 2018 Apr;1417(1):5-22. doi: 10.1111/nyas.13011. Epub 2016 Feb 25. Ann N Y Acad Sci. 2018. PMID: 26918796 Review.
As IPEX awareness and characterization have increased, so has identification of FOXP3 mutations, with at least 70 to date. ...Here, we review current knowledge about IPEX syndrome and highlight findings that could lead to novel targeted treatments....
As IPEX awareness and characterization have increased, so has identification of FOXP3 mutations, with at least 70 to date. ...Here, w …
Hyper IgE syndromes: clinical and molecular characteristics.
Al-Shaikhly T, Ochs HD. Al-Shaikhly T, et al. Immunol Cell Biol. 2019 Apr;97(4):368-379. doi: 10.1111/imcb.12209. Epub 2018 Nov 19. Immunol Cell Biol. 2019. PMID: 30264496 Review.
Regulatory T Cells: the Many Faces of Foxp3.
Georgiev P, Charbonnier LM, Chatila TA. Georgiev P, et al. J Clin Immunol. 2019 Oct;39(7):623-640. doi: 10.1007/s10875-019-00684-7. Epub 2019 Sep 2. J Clin Immunol. 2019. PMID: 31478130 Free PMC article. Review.
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T. Kanegane H, et al. Allergol Int. 2018 Jan;67(1):43-54. doi: 10.1016/j.alit.2017.06.003. Epub 2017 Jul 3. Allergol Int. 2018. PMID: 28684198 Free article. Review.
Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper IgM syndromes, Wiskott-Aldrich syndrome, X-linked lymphoproliferative syndrome, familial hemophagocytic lymphohistiocytosis, autoimmune lympho …
Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper Ig …
IPEX Syndrome.
Tan QKG, Louie RJ, Sleasman JW. Tan QKG, et al. 2004 Oct 19 [updated 2018 Jul 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301297 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. ...MANAGEMENT: Treatment of manifestations: Bone marrow transplantation (BMT) …
CLINICAL CHARACTERISTICS: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemi …
Implications of polyadenylation in health and disease.
Curinha A, Oliveira Braz S, Pereira-Castro I, Cruz A, Moreira A. Curinha A, et al. Nucleus. 2014;5(6):508-19. doi: 10.4161/nucl.36360. Epub 2014 Oct 31. Nucleus. 2014. PMID: 25484187 Free PMC article. Review.
Genetics on early onset inflammatory bowel disease: An update.
Nameirakpam J, Rikhi R, Rawat SS, Sharma J, Suri D. Nameirakpam J, et al. Genes Dis. 2019 Oct 15;7(1):93-106. doi: 10.1016/j.gendis.2019.10.003. eCollection 2020 Mar. Genes Dis. 2019. PMID: 32181280 Free PMC article. Review.
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. Park JH, et al. Autoimmun Rev. 2020 Jun;19(6):102526. doi: 10.1016/j.autrev.2020.102526. Epub 2020 Mar 29. Autoimmun Rev. 2020. PMID: 32234571
Various autoimmune phenomena such as enteropathy, endocrinopathies, cytopenias, renal disease, and skin manifestations are characteristic findings in patients affected by IPEX syndrome. OBJECTIVES: In this systematic review, we focus on both clinical and demographic charac …
Various autoimmune phenomena such as enteropathy, endocrinopathies, cytopenias, renal disease, and skin manifestations are characteristic fi …
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. Gambineri E, et al. Front Immunol. 2018 Nov 1;9:2411. doi: 10.3389/fimmu.2018.02411. eCollection 2018. Front Immunol. 2018. PMID: 30443250 Free PMC article.
Methods: We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of FOXP3 mutation-positive (IPEX patients) with those from FOXP3 mutation-negative patients (IPEX-like). ...Conclusions: We provid …
Methods: We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of F …
Mechanisms of human FoxP3+ Treg cell development and function in health and disease.
Attias M, Al-Aubodah T, Piccirillo CA. Attias M, et al. Clin Exp Immunol. 2019 Jul;197(1):36-51. doi: 10.1111/cei.13290. Epub 2019 Apr 1. Clin Exp Immunol. 2019. PMID: 30864147 Free PMC article. Review.
Particular attention will be paid to the developmental and functional heterogeneity of human T(reg) cells, and how abrogating these mechanisms can lead to lineage instability and T(reg) cell dysfunction in diseases like immunodysregulation polyendocrinopathy enteropathy X-linked …
Particular attention will be paid to the developmental and functional heterogeneity of human T(reg) cells, and how abrogating these mechanis …
335 results
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