Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Isabel Z Fernandez"'
Autor:
Rosemary Rochford, Hesham Eissa, Ryan M Baxter, Jennifer O. Black, James C. Gumbart, Ralph Quinones, Cullen M. Dutmer, Isabel Z. Fernandez, Judith R. Kelsen, Michael R. Verneris, Ross M. Kedl, Thanmayi Ranganath, Noor Dawany, Daniel S Kong, Karl Lundquist, Josselyn E Garcia-Perez, Edwin F. de Zoeten, Tom C. Nguyen, Csaba Galambos, Elena Vendrame, Elena W Y Hsieh, Kathleen E. Sullivan, Sidney Ogolla, Catherine A. Blish
Publikováno v:
Journal of Experimental Medicine. 216:1255-1267
The pleiotropic actions of interleukin-2 (IL-2) are essential for regulation of immune responses and maintenance of immune tolerance. The IL-2 receptor (IL-2R) is composed of IL-2Rα, IL-2Rβ, and IL-2Rγ subunits, with defects in IL-2Rα and IL-2Rγ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::896f5e9be361dbe792f91449537335c3
https://doi.org/10.1084/jem.20182015
https://doi.org/10.1084/jem.20182015
Autor:
Olivia Bailey, Josselyn E Garcia-Perez, Ryan M Baxter, Berenice Cabrera-Martinez, Victor G Lui, Isabel Z Fernandez, Mary J Foster, Rachel Gessner, Laurent Gapin, Eric M Pietras, Ross Kedl, Elena Hsieh
Publikováno v:
The Journal of Immunology. 208:159.08-159.08
Human inborn errors of immunity (IEIs) are a class of genetic disorders caused by monogenic germline mutations that impair the function of the encoded protein. We recently described a novel IEI due to an IL2RB homozygous mutation (p.Pro222_Gln225Del)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::171db3cb09285f26ec829941c7449e3e
https://doi.org/10.4049/jimmunol.208.supp.159.08
https://doi.org/10.4049/jimmunol.208.supp.159.08
Autor:
Isabel Z, Fernandez, Ryan M, Baxter, Josselyn E, Garcia-Perez, Elena, Vendrame, Thanmayi, Ranganath, Daniel S, Kong, Karl, Lundquist, Tom, Nguyen, Sidney, Ogolla, Jennifer, Black, Csaba, Galambos, James C, Gumbart, Noor, Dawany, Judith R, Kelsen, Edwin F, de Zoeten, Ralph, Quinones, Hesham, Eissa, Michael R, Verneris, Kathleen E, Sullivan, Rosemary, Rochford, Catherine A, Blish, Ross M, Kedl, Cullen M, Dutmer, Elena W Y, Hsieh
Publikováno v:
The Journal of Experimental Medicine
A novel homozygous mutation in human IL2RB results in decreased IL-2Rβ protein expression and dysregulated IL-2/15 signaling. This hypomorphic mutation leads to decreased regulatory T cell frequency and an abnormal NK cell compartment, with clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9a16225c2317acab4dba18afac59fcc
https://pubmed.ncbi.nlm.nih.gov/31040184
https://pubmed.ncbi.nlm.nih.gov/31040184
Autor:
Isabel Z, Fernandez, Ryan M, Baxter, Josselyn E, Garcia-Perez, Elena, Vendrame, Thanmayi, Ranganath, Daniel S, Kong, Karl, Lundquist, Tom, Nguyen, Sidney, Ogolla, Jennifer, Black, Csaba, Galambos, James C, Gumbart, Noor, Dawany, Judith R, Kelsen, Edwin F, de Zoeten, Ralph, Quinones, Hesham, Eissa, Michael R, Verneris, Kathleen E, Sullivan, Rosemary, Rochford, Catherine A, Blish, Ross M, Kedl, Cullen M, Dutmer, Elena W Y, Hsieh
Publikováno v:
The Journal of Experimental Medicine
The pleiotropic actions of interleukin-2 (IL-2) are essential for regulation of immune responses and maintenance of immune tolerance. The IL-2 receptor (IL-2R) is composed of IL-2Rα, IL-2Rβ, and IL-2Rγ subunits, with defects in IL-2Rα and IL-2Rγ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a17d25ad1ca69717d16abf79697c9b94
https://pubmed.ncbi.nlm.nih.gov/31088899
https://pubmed.ncbi.nlm.nih.gov/31088899
Autor:
Rosemary Rochford, Ryan M Baxter, Hesham Eissa, Josselyn E Garcia-Perez, Thanmayi Ranganath, Catherine A. Blish, Kathleen E. Sullivan, Cullen M. Dutmer, Judith R. Kelsen, James C. Gumbart, Csaba Galambos, Sidney Ogolla, Daniel S Kong, Isabel Z. Fernandez, Jennifer O. Black, Ross M. Kedl, Karl Lundquist, Ralph Quinones, Tom C. Nguyen, Elena Vendrame, Elena W Y Hsieh, Noor Dawany, Edwin F. de Zoeten, Michael R. Verneris
Publikováno v:
Journal of Experimental Medicine. 216:1465-1465
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea721e5b9687b7f06e3835a92c9885c0
https://doi.org/10.1084/jem.2018201505102019c
https://doi.org/10.1084/jem.2018201505102019c