GulbuUzelMD

PubMed

• Long-Term Treatment With Selective PI3Kδ Inhibitor Leniolisib in Adults With Activated PI3Kδ Syndrome.
  V Koneti Rao, Elaine M Kulm, Jennifer K Grossman, David K Buchbinder, Jason Bradt, Sharon Webster, Anna Šedivá, Virgil A Dalm, Hey Chong, Gulbu Uzel> ;Blood Advances. 2024 Apr 9
• Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
  Ann Y Park, Michael Leney-Greene, Matthew Lynberg, Justin Q Gabrielski, Xijin Xu, Benjamin Schwarz, Lixin Zheng, Arasu Balasubramaniyam, Hyoungjun Ham, Brittany Chao, ...> ;Nature Immunology. 2024 Apr 1
• Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coin.
  Gulbu Uzel, Baerbel Keller, Klaus Warnatz> ;The Journal of Allergy and Clinical Immunology. 2024 Jan 1
• 3 citations
  Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies.
  Mackenzie Zendt, Fausto A Bustos Carrillo, Sophie Kelly, Taylor Saturday, Maureen DeGrange, Anita Ginigeme, Lurline Wu, Viviane Callier, Ana Ortega-Villa, Mondreakest ...> ;Science Advances. 2023 Oct 13
• 3 citations
  Interim analysis: Open-label extension study of leniolisib for patients with APDS.
  V Koneti Rao, Elaine Kulm, Anna Šedivá, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Virgil A Dalm, Antonino Trizzino, Yulia Zharankova, Sharon Webster, Ala...> ;The Journal of Allergy and Clinical Immunology. 2024 Jan 1
• 1 citations
  Management and outcome of COVID-19 in CTLA-4 insufficiency.
  Sebastian Ochoa, Michael S Abers, Lindsey B Rosen, Amy Rump, Katherine Howe, Jay A Lieberman, Benjamin L Wright, Daniel Suez, Máté Krausz, Bodo Grimbacher, Michail S L...> ;Blood Advances. 2023 Oct 10
• 5 citations
  Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
  Tina Nguyen, Anthony Lau, Julia Bier, Kristen C Cooke, Helen Lenthall, Stephanie Ruiz-Diaz, Danielle T Avery, Henry Brigden, David Zahra, William A Sewell, Luke Droney...> ;The Journal of Experimental Medicine. 2023 Jun 5
• 19 citations
  A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.
  V Koneti Rao, Sharon Webster, Anna Šedivá, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Niall Conlon, Tanya Coulter, Virgil A Dalm, Antonino Trizzino, Yulia...> ;Blood. 2023 Mar 2
• 16 citations
  STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2DCD8T cell dysregulation and accumulation.
  Etienne Masle-Farquhar, Katherine J L Jackson, Timothy J Peters, Ghamdan Al-Eryani, Mandeep Singh, Kathryn J Payne, Geetha Rao, Danielle T Avery, Gabrielle Apps, Jenni...> ;Immunity. 2022 Dec 13
• 1 citations
  Angiosarcoma in Long-Standing Nodular Regenerative Hyperplasia.
  Nehna Abdul Majeed, David E Kleiner, Gulbu Uzel, Christopher Koh, Theo Heller> ;ACG Case Reports Journal. 2022 Oct 1
• 10 citations
  Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
  Myles, I. A., Morgan N Similuk, Jia Yan, Rajarshi Ghosh, Andrew J Oler, Luis M Franco, Michael R Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, ...> ;The Journal of Allergy and Clinical Immunology. 2022 Oct 1
• 1 citations
  DisseminatedInfection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
  Arthur H Totten, Gulbu Uzel, Pavel P Khil, Jung-Ho Youn, Jennifer Treat, Craig D Soutar, Steven M Holland, John P Dekker, Christa S Zerbe> ;Open Forum Infectious Diseases. 2022 Sep 1
• 27 citations
  Human T-bet governs the generation of a distinct subset of CD11cCD21B cells.
  Rui Yang, Danielle T Avery, Katherine J L Jackson, Masato Ogishi, Ibtihal Benhsaien, Likun Du, Xiaofei Ye, Jing Han, Jérémie Rosain, Jessica N Peel, Marie-Alexandra Al...> ;Science Immunology. 2022 Jul 22
• 4 citations
  Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in.
  Guowu Hu, Pia J Hauk, Nannan Zhang, Waleed Elsegeiny, Carlos M Guardia, Amy Kullas, Kevin Crosby, Robin R Deterding, Michaela Schedel, Paul Reynolds, Jordan K Abbott, ...> ;Autophagy. 2023 Feb 1
• 26 citations
  Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
  Juan Li, Wei-Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J. Pelham, András N Sp...> ;The Journal of Experimental Medicine. 2021 Nov 1
• 3 citations
  Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
  Stuart G. Tangye, Paul Gray, Bethany Pillay, Jin Yan Yap, William A. Figgett, John Reeves, Sarah K. Kummerfeld, Jennifer Stoddard, Gulbu Uzel, Huie Jing, Helen C. Su, ...> ;Journal of Clinical Immunology. 2021 Oct 17
• 11 citations
  PI3Kδ coordinates transcriptional, chromatin, and metabolic changes to promote effector CD8+ T cells at the expense of central memory.
  Jennifer L. Cannons, Alejandro V. Villarino, Senta M. Kapnick, Silvia Preite, Han-Yu Shih, Julio Gomez-Rodriguez, Zenia Kaul, Hirofumi Shibata, Julie Reilley, Bonnie H...> ;Cell Reports. 2021 Oct 12
• 59 citations
  The expansion of human T-bet high CD21 low B cells is T cell dependent
  Baerbel Keller, Valentina Strohmeier, Ina Harder, Susanne Unger, Kathryn Payne, Geoffroy Andrieux, Melanie Boerries, Peter Tobias Felixberger, Jonathan J. M. Landry, A...> ;Science Immunology. 2021 Oct 8
• 17 citations
  Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
  Anna Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, Tom Le Voyer, Romain Lévy, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris, Alisan Yildiran, Engin Altundag, Ma...> ;The Journal of Experimental Medicine. 2021 Sep 6
• 1 citations
  Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis and rescue by IL-21.
  SuJin Hwang, Christina Tatsi, Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Yan Su, Maya Lodish, Gulbu Uzel, Rosanne Spolski, Warren J. Leonard, Steven M. Hollan...> ;The Journal of Allergy and Clinical Immunology. 2021 Jun 2
• 7 citations
  Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication
  Cristiane J Nunes-Santos, Christopher Koh, Anjali Rai, Keith Sacco, Beatriz E. Marciano, David E. Kleiner, Jamie Marko, Jenna R.E. Bergerson, Michael Stack, Maria M. R...> ;The Journal of Allergy and Clinical Immunology. 2021 Jun 1
• 25 citations
  International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
  Dimana Dimitrova, Zohreh Nademi, Maria Elena Maccari, Stephan Ehl, Gulbu Uzel, Takahiro Tomoda, Tsubasa Okano, Kohsuke Imai, B Carpenter, Winnie Ip, Kanchan Rao, Auste...> ;The Journal of Allergy and Clinical Immunology. 2021 May 24
• 16 citations
  Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
  Deniz Cagdas, Daniel Mayr, Safa Baris, Lisa Worley, David B. Langley, Ayşe Metin, Elif Soyak Aytekin, Raziye Atan, Nurhan Kasap, Sevgi Köstel Bal, Jasmin Dmytrus, Raul...> ;Journal of Clinical Immunology. 2021 Apr 30
• 3 citations
  Recurrent Nodular Regenerative Hyperplasia Following Liver Transplantation in Common Variable Immunodeficiency
  Julian Hercun, Esha Parikh, David E. Kleiner, Ivan J. Fuss, Gulbu Uzel, Warren Strober, Christopher Koh, Steven M. Holland, Theo Heller> ;Hepatology. 2021 Feb 27
• 2 citations
  Mapping Out Autoimmunity Control in Primary Immune Regulatory Disorders
  Jocelyn R. Farmer, Gulbu Uzel> ;The Journal of Allergy and Clinical Immunology. in Practice. 2021 Feb 1
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Other

• Mendelian susceptibility to mycobacterial diseases (MSMD) 
  Uzel G
  http://www.uptodate.com/contents/mendelian-susceptibility-to-mycobacterial-diseases-msmd
  UpToDate, Wolters Kluwer Health - 2012-09-19