Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,170 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ. Ravell JC, et al. Among authors: price s. J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. J Clin Invest. 2020. PMID: 31714901 Free PMC article.
Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).
Lisco A, Wong CS, Price S, Ye P, Niemela J, Anderson M, Richards E, Manion M, Mystakelis H, Similuk M, Lo B, Stoddard J, Rosenzweig S, Vanpouille C, Rupert A, Maric I, Perez-Diez A, Parenti D, Burbelo PD, Rao VK, Sereti I. Lisco A, et al. Among authors: price s. Front Immunol. 2019 May 29;10:1193. doi: 10.3389/fimmu.2019.01193. eCollection 2019. Front Immunol. 2019. PMID: 31191551 Free PMC article.
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Lucas CL, et al. Among authors: price s. J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8. J Exp Med. 2014. PMID: 25488983 Free PMC article.
Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).
Lisco A, Wong CS, Price S, Ye P, Niemela J, Anderson M, Richards E, Manion M, Mystakelis H, Similuk M, Lo B, Stoddard J, Rosenzweig S, Vanpouille C, Rupert A, Maric I, Perez-Diez A, Parenti D, Burbelo PD, Rao VK, Sereti I. Lisco A, et al. Among authors: price s. Front Immunol. 2019 Jul 4;10:1552. doi: 10.3389/fimmu.2019.01552. eCollection 2019. Front Immunol. 2019. PMID: 31333676 Free PMC article.
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. Lo B, et al. Among authors: price s. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. Science. 2015. PMID: 26206937
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ. Price S, et al. Blood. 2014 Mar 27;123(13):1989-99. doi: 10.1182/blood-2013-10-535393. Epub 2014 Jan 7. Blood. 2014. PMID: 24398331 Free PMC article. Clinical Trial.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Among authors: price s. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
2,170 results