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Journal Articles

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Blood (2023) 141 (9): 971–983.

https://doi.org/10.1182/blood.2022018546

Published: 2023

Includes: Supplemental data

Journal Articles

Interim Analysis of Safety and Hematological Parameters of an Ongoing Long-Term Open-Label Extension Study of Investigational PI3Kδ Inhibitor Leniolisib for Patients with Activated PI3K Delta Syndrome (APDS) through December 2021

V. Koneti Rao, Sharon Webster, Anna Sediva, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Virgil A.S.H. Dalm, Antonino Trizzino, Yulia Zharankova, Elaine Kulm, Alanvin Orpia, Lavenda Chirombo Kluczynski, Julia Körholz, Vassilios Lougaris, Yulia Rodina, Klaus Kucher, Kath Radford, Jason Bradt, Gulbu Uzel

Blood (2022) 140 (Supplement 1): 1643–1645.

https://doi.org/10.1182/blood-2022-160334

Published: 2022

Journal Articles

Autoimmune Cytopenias in Nonmalignant Lymphoproliferative Disorders: Thinking Beyond ALPS(Autoimmune Lymphoproliferative Syndrome)

Elaine Kulm, CRNP-AC, Sharon Webster, BSN, Kate Howe, PA-C, Amy Rump, FNP-BC, Gulbu Uzel, MD, V. Koneti Rao, MD FRCPA

Blood (2020) 136 (Supplement 1): 48.

https://doi.org/10.1182/blood-2020-137640

Published: 2020

Journal Articles

Safety and Efficacy of Long Term Suppression of PI3Kinase Pathway By Small Molecule PI3K-Delta Inhibitor, Leniolisib in Apds (Activated PI3Kδ Syndrome)

V. Koneti Rao, MD FRCPA, Sharon Webster, BSN, Virgil A.S.H. Dalm, MD, Anna Sediva, MD, P. Martin van Hagen, H. Michael Do, MD, Les Folio, MD, Maciej Cabanski, Marie-Anne Valentin, Stefan de Buck, Christoph Kalis, Anke Hasselberg, Christoph Burkhart, Klaus Kucher, MD, Birgitte Sloth, Gulbu Uzel, MD

Blood (2018) 132 (Supplement 1): 3706.

https://doi.org/10.1182/blood-2018-99-113426

Published: 2018

Journal Articles

Spare the Spleen in ALPS: It Is Not an Expendable Vestigial Organ

V. Koneti Rao, MD FRCPA, Elaine Kulm, Susan Price, Sharon Webster, BSN, Les Folio, MD, Gulbu Uzel, MD, David T Teachey, MD

Blood (2018) 132 (Supplement 1): 2435.

https://doi.org/10.1182/blood-2018-99-117394

Published: 2018

Journal Articles

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

Gulbu Uzel, MD, Djuro Karanovic, MD, Hua Su, PhD, Amy Rump, Anahita Agharahimi, Steven M. Holland, MD, V. Koneti Rao, MD FRCPA

Blood (2018) 132 (Supplement 1): 2409.

https://doi.org/10.1182/blood-2018-99-120185

Published: 2018

Journal Articles

CD25-Dependent Feedback Control of the B-Cell Receptor and Its Oncogenic Mimics in B-Cell Malignancies

Blood (2018) 132 (Supplement 1): 776.

https://doi.org/10.1182/blood-2018-99-117553

Published: 2018

Journal Articles

Germline Mutations in CTLA4 and Spectrum of Bone Marrow Features Overlapping with Aplastic Anemia and Large Granular Lymphocyte Lymphocytosis

Laura M Wake, MD, Changqing Xie, MD, Weixin Wang, PhD, Kristian T. Schafernak, MD MPH, V. Koneti Rao, MD FRCPA, Neal S. Young, MD, Danielle M. Townsley, MDMSc, Gulbu Uzel, MD, Katherine R Calvo, MD PhD

Blood (2017) 130 (Supplement 1): 2448.

https://doi.org/10.1182/blood.V130.Suppl_1.2448.2448

Published: 2017

Journal Articles

Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib

Blood (2017) 130 (21): 2307–2316.

https://doi.org/10.1182/blood-2017-08-801191

Published: 2017

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Blood (2017) 130 (12): 1456–1467.

https://doi.org/10.1182/blood-2017-03-771600

Published: 2017

Includes: Supplemental data

Journal Articles

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Blood (2016) 128 (17): 2135–2143.

https://doi.org/10.1182/blood-2016-03-706028

Published: 2016

Includes: Multimedia, Supplemental data

Journal Articles

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

Bernice Lo, Jill M. Fritz, Helen C. Su, Gulbu Uzel, Michael B. Jordan, Michael J. Lenardo

Blood (2016) 128 (8): 1037–1042.

https://doi.org/10.1182/blood-2016-04-712612

Published: 2016

Journal Articles

Haploidentical Transplantation for DOCK8 Deficiency

Nirali N Shah, MD, Alexandra F Freeman, MD, Mark Parta, MD, Helen Su, MD PhD, Gulbu Uzel, MD, Juan C. Gea-Banacloche, MD, Steven M. Holland, MD, Dennis D. Hickstein, MD

Blood (2015) 126 (23): 2229.

https://doi.org/10.1182/blood.V126.23.2229.2229

Published: 2015

Journal Articles

Abnormal B-Cell Maturation Pattern in the Bone Marrow of Patients with Germline Mutations in PIK3CD

Alina E Dulau Florea, MD, Raul C Braylan, MD, Kristian T. Schafernak, MD MPH, Stefania Pittaluga, MD PhD, Steven M. Holland, MD, Gulbu Uzel, MD, Katherine R. Calvo, MD, PhD

Blood (2014) 124 (21): 2752.

https://doi.org/10.1182/blood.V124.21.2752.2752

Published: 2014

Journal Articles

XMEN disease: a new primary immunodeficiency affecting Mg 2+ regulation of immunity against Epstein-Barr virus

Feng-Yen Li, Benjamin Chaigne-Delalande, Helen Su, Gulbu Uzel, Helen Matthews, Michael J. Lenardo

Blood (2014) 123 (14): 2148–2152.

https://doi.org/10.1182/blood-2013-11-538686

Published: 2014

Journal Articles

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Blood (2014) 123 (6): 809–821.

https://doi.org/10.1182/blood-2013-07-515528

Published: 2014

Includes: Supplemental data

Journal Articles

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Blood (2013) 122 (24): 3940–3950.

https://doi.org/10.1182/blood-2013-06-506865

Published: 2013

Journal Articles

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Hye Sun Kuehn, Julie E. Niemela, Andreia Rangel-Santos, Mingchang Zhang, Stefania Pittaluga, Jennifer L. Stoddard, Ashleigh A. Hussey, Moses O. Evbuomwan, Debra A. Long Priel, Douglas B. Kuhns, C. Lucy Park, Thomas A. Fleisher, Gulbu Uzel, João B. Oliveira

Blood (2013) 121 (16): 3117–3125.

https://doi.org/10.1182/blood-2012-12-469544

Published: 2013

Includes: Supplemental data

Journal Articles

Rapid activation receptor– or IL-2–induced lytic granule convergence in human natural killer cells requires Src, but not downstream signaling

Ashley Mentlik James, Hsiang-Ting Hsu, Prachi Dongre, Gulbu Uzel, Emily M. Mace, Pinaki P. Banerjee, Jordan S. Orange

Blood (2013) 121 (14): 2627–2637.

https://doi.org/10.1182/blood-2012-06-437012

Published: 2013

Includes: Multimedia, Supplemental data

Journal Articles

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56 bright subset

Emily M. Mace, Amy P. Hsu, Linda Monaco-Shawver, George Makedonas, Joshua B. Rosen, Lesia Dropulic, Jeffrey I. Cohen, Eugene P. Frenkel, John C. Bagwell, John L. Sullivan, Christine A. Biron, Christine Spalding, Christa S. Zerbe, Gulbu Uzel, Steven M. Holland, Jordan S. Orange

Blood (2013) 121 (14): 2669–2677.

https://doi.org/10.1182/blood-2012-09-453969

Published: 2013

Includes: Supplemental data

NARROW

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Interim Analysis of Safety and Hematological Parameters of an Ongoing Long-Term Open-Label Extension Study of Investigational PI3Kδ Inhibitor Leniolisib for Patients with Activated PI3K Delta Syndrome (APDS) through December 2021

Autoimmune Cytopenias in Nonmalignant Lymphoproliferative Disorders: Thinking Beyond ALPS(Autoimmune Lymphoproliferative Syndrome)

Safety and Efficacy of Long Term Suppression of PI3Kinase Pathway By Small Molecule PI3K-Delta Inhibitor, Leniolisib in Apds (Activated PI3Kδ Syndrome)

Spare the Spleen in ALPS: It Is Not an Expendable Vestigial Organ

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

CD25-Dependent Feedback Control of the B-Cell Receptor and Its Oncogenic Mimics in B-Cell Malignancies

Germline Mutations in CTLA4 and Spectrum of Bone Marrow Features Overlapping with Aplastic Anemia and Large Granular Lymphocyte Lymphocytosis

Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG /NEMO mutations

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

Haploidentical Transplantation for DOCK8 Deficiency

Abnormal B-Cell Maturation Pattern in the Bone Marrow of Patients with Germline Mutations in PIK3CD

XMEN disease: a new primary immunodeficiency affecting Mg 2+ regulation of immunity against Epstein-Barr virus

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Rapid activation receptor– or IL-2–induced lytic granule convergence in human natural killer cells requires Src, but not downstream signaling

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56 bright subset

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American Society of Hematology

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ASH Publications

American Society of Hematology

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