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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

Clinical Spectrum of Patients with Pathogenic Variant of STAT3 conferring Gain-of-Function: A Mimic of Autoimmune Lymphoproliferative Syndrome

Gregory Constantine, MD, Helen Su, MD, PhD, Les Folio, MD, Joshua Milner, MD, V. Koneti Rao, MD FRCPA

Blood (2018) 132 (Supplement 1): 3723.

https://doi.org/10.1182/blood-2018-99-111950

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

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

Indolent Phenotype of RAS-Associated Autoimmune Leukoproliferative Disorder (RALD) Is Characterized By Single Somatic Mutations in RAS Genes with Absence of Cooperating Mutations

Vollter Anastas, B.S., Weixin Wang, PhD, Susan Price, Zhen Zhao, PhD, V. Koneti Rao, MD, Katherine R. Calvo, MD PhD

Blood (2016) 128 (22): 4268.

https://doi.org/10.1182/blood.V128.22.4268.4268

Published: 2016

Journal Articles

Clinical Spectrum of Autoimmune Lymphoproliferative Syndrome Associated with Caspase10 Mutations (ALPS-CASP10)

V. Koneti Rao, MD, Susan Price, Morgan Similuk, Julie Niemela, Joshua D Milner, MD, Sergio Rosenzweig, MD

Blood (2016) 128 (22): 1335.

https://doi.org/10.1182/blood.V128.22.1335.1335

Published: 2016

Journal Articles

Utility of Fluorodeoxyglucose Positron Emission Tomography(FDG-PET) and Biomarkers, Serum Vitamin B12 and HDL for Assessing Lymphoproliferation in Children and Adults with Autoimmune Lymphoproliferative Syndrome Due to FAS Mutations (ALPS-FAS)

V. Koneti Rao, MD, Susan Price, Lori Dodd, Remaley Alan, Millie Whatley, Jorge Carrasquillo, MD, Clara C. Chen, MD

Blood (2016) 128 (22): 4891.

https://doi.org/10.1182/blood.V128.22.4891.4891

Published: 2016

Journal Articles

Elevated Interleukin-10 and “Disappearing HDL Syndrome” in Lymphoproliferative Disorders

Andreas Moriaitis, MD, Lita Freeman, PhD, Robert Shamburek, MD, Robert Wesley, PhD, Wyndham H. Wilson, MD PhD, Cliona Grant, MD, Susan Price, RN, Seth Thacker, PhD, Abdalrahman Zarzour, Frank Pucino, PharmD, Gyorgy Csako, Cheryl Yarboro, Iain McInnes, PhD, Takashi Kuroiwa, Dimitrios Boumpas, Gabor Illei, MD, Alan T. Remaley, V. Koneti Rao, MD

Blood (2014) 124 (21): 4134.

https://doi.org/10.1182/blood.V124.21.4134.4134

Published: 2014

Journal Articles

Expanding Spectrum of Malignancies in ALPS: A Cancer Predisposing Syndrome?.

Katie Perkins, NP, Joie Davis, NP, Susan Price, RN, Julie Niemela, PhD, Andreas R. Huber, MD, Donna A. Wall, MD, Stefania Pittaluga, MD, PhD, Thomas A. Fleisher, MD, V. Koneti Rao, MD

Blood (2012) 120 (21): 2149.

https://doi.org/10.1182/blood.V120.21.2149.2149

Published: 2012

Journal Articles

Mycophenolate Mofetil and Thrombopoietin Receptor Agonists in the Treatment of Refractory Thrombocytopenia in Patients with Autoimmune Lymphoproliferative Syndrome

Leejah Chang, MD, Susan Price, RN, Katie Perkins, NP, Joie Davis, NP, Patricia Aldridge, CRN, Michael Recht, MD, PhD, John Kelleher, MD, V. Koneti Rao, MD

Blood (2011) 118 (21): 2218.

https://doi.org/10.1182/blood.V118.21.2218.2218

Published: 2011

Journal Articles

Identifying Biomarkers in the Autoimmune Lymphoproliferative Syndrome (ALPS): IL-18, TNF-á, Serum Vitamin B12, Soluble FasL, and Plasma IL-10 Levels Are Useful Adjuvant Diagnostic Tools.

Iusta Caminha, Thomas Fleisher, Julie Niemela, Ron Hornung, PhD, Joie Davis, Katie Perkins, Kennichi Dowdell, PhD, Susan Price, RN, Margaret Brown, BSc, V. Koneti Rao, MD, FRCPA, Joao Bosco Oliveira, MD, PhD

Blood (2009) 114 (22): 1647.

https://doi.org/10.1182/blood.V114.22.1647.1647

Published: 2009

Journal Articles

Somatic Fas Mutations Account for Nearly One Third of Autoimmune Lymphoproliferative Syndrome (ALPS) Cases with Previously Unknown Genetic Mutations.

Kennichi Dowdell, PhD, Julie Niemela, Susan Price, Joie Davis, Katie Perkins, Janet Dale, Jennifer M. Puck, MD, Joao Bosco Oliveira, MD, PhD, Jeffrey Cohen, MD, Thomas Fleisher, MD, V. Koneti Rao, MD

Blood (2009) 114 (22): 710.

https://doi.org/10.1182/blood.V114.22.710.710

Published: 2009

Journal Articles

Lymphocyte Homeostasis FAS Pathway Is Altered in Some Patients with Immune Thrombocytopenia.

Nichola Cooper, MRCP, MRCPath, MD, V. Koneti Rao, MD, FRCPA, Thomas Fleisher, James B. Bussel, MD

Blood (2009) 114 (22): 3514.

https://doi.org/10.1182/blood.V114.22.3514.3514

Published: 2009

Journal Articles

CT Scan Enumeration of Altered Spleen Status and Pulmonary Artery Size in Patients with Autoimmune Lymphoproliferative Syndrome (ALPS).

Elisabeth Wynne, Katie Perkins, Susan Price, RN, Adeline Louie, MD, V. Koneti Rao, MD, FRCPA

Blood (2009) 114 (22): 4034.

https://doi.org/10.1182/blood.V114.22.4034.4034

Published: 2009

Journal Articles

Significantly Elevated Vitamin B 12 Levels in Autoimmune Lymphoproliferative Syndrome (ALPS), a Rare Lymphoproliferative Disorder with Apoptosis Defect

Raffick AR Bowen, MLT, PhD, DClChem, FCACB, DABCC, Janet K Dale, RN, MPH, Margaret Brown, BSc, Steven K Drake, PhD, Tarsilla Moura, Kennichi Dowdell, PhD, Alan T Remaley, MD, PhD, Thomas A Fleisher, MD, Glen L Hortin, MD, PhD, Ebba Nexo, MD, Stephen E Straus, MD, V. Koneti Rao, MD, FRCPA

Blood (2008) 112 (11): 4898.

https://doi.org/10.1182/blood.V112.11.4898.4898

Published: 2008

Journal Articles

Hydroxychloroquine Diminishes Lymphoproliferation in the Fas Deficient MRL/lpr−/− Murine Model of Autoimmune Lymphoproliferative Syndrome (ALPS).

Kennichi C. Dowdell, Ph.D., Lesley Pesnicak, BS, Lilia Bi, Ph.D., Victoria Hoffmann, DVM, V. Koneti Rao, MD, Stephen E. Straus, MD

Blood (2007) 110 (11): 1385.

https://doi.org/10.1182/blood.V110.11.1385.1385

Published: 2007

Journal Articles

Use of Rituximab for Refractory Immune Cytopenias Associated with Autoimmune Lymphoproliferative Syndrome (ALPS).

Janet K. Dale, RN, Susan Price, RN, Jean Tretler, RN, Patricia Aldridge, RN, Stephanie Montague, RN MSN, Joie Davis, APRN, Fred Gill, MD, Kip R. Hartman, MD, Linda C. Stork, MD, David J. Gnarra, MD, Lakshmanan Krishnamurti, MD, Jennifer Puck, MD, Thomas Fleisher, MD, V. Koneti Rao, MD

Blood (2007) 110 (11): 1319.

https://doi.org/10.1182/blood.V110.11.1319.1319

Published: 2007

Journal Articles

Role of Somatic Fas Mutations in the Pathogenesis of Autoimmune Lymphoproliferative Syndrome (ALPS).

Kennichi C. Dowdell, PhD, Julie Niemela, BS, MT(ASCP), Janet K. Dale, RN, MPH, Jennifer Puck, MD, V. Koneti Rao, MD, Thomas Fleisher, MD, Stephen E. Straus, MD

Blood (2006) 108 (11): 3900.

https://doi.org/10.1182/blood.V108.11.3900.3900

Published: 2006

NARROW

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)

Clinical Spectrum of Patients with Pathogenic Variant of STAT3 conferring Gain-of-Function: A Mimic of Autoimmune Lymphoproliferative Syndrome

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

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

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

Indolent Phenotype of RAS-Associated Autoimmune Leukoproliferative Disorder (RALD) Is Characterized By Single Somatic Mutations in RAS Genes with Absence of Cooperating Mutations

Clinical Spectrum of Autoimmune Lymphoproliferative Syndrome Associated with Caspase10 Mutations (ALPS-CASP10)

Utility of Fluorodeoxyglucose Positron Emission Tomography(FDG-PET) and Biomarkers, Serum Vitamin B12 and HDL for Assessing Lymphoproliferation in Children and Adults with Autoimmune Lymphoproliferative Syndrome Due to FAS Mutations (ALPS-FAS)

Elevated Interleukin-10 and “Disappearing HDL Syndrome” in Lymphoproliferative Disorders

Expanding Spectrum of Malignancies in ALPS: A Cancer Predisposing Syndrome?.

Mycophenolate Mofetil and Thrombopoietin Receptor Agonists in the Treatment of Refractory Thrombocytopenia in Patients with Autoimmune Lymphoproliferative Syndrome

Identifying Biomarkers in the Autoimmune Lymphoproliferative Syndrome (ALPS): IL-18, TNF-á, Serum Vitamin B12, Soluble FasL, and Plasma IL-10 Levels Are Useful Adjuvant Diagnostic Tools.

Somatic Fas Mutations Account for Nearly One Third of Autoimmune Lymphoproliferative Syndrome (ALPS) Cases with Previously Unknown Genetic Mutations.

Lymphocyte Homeostasis FAS Pathway Is Altered in Some Patients with Immune Thrombocytopenia.

CT Scan Enumeration of Altered Spleen Status and Pulmonary Artery Size in Patients with Autoimmune Lymphoproliferative Syndrome (ALPS).

Significantly Elevated Vitamin B 12 Levels in Autoimmune Lymphoproliferative Syndrome (ALPS), a Rare Lymphoproliferative Disorder with Apoptosis Defect

Hydroxychloroquine Diminishes Lymphoproliferation in the Fas Deficient MRL/lpr−/− Murine Model of Autoimmune Lymphoproliferative Syndrome (ALPS).

Use of Rituximab for Refractory Immune Cytopenias Associated with Autoimmune Lymphoproliferative Syndrome (ALPS).

Role of Somatic Fas Mutations in the Pathogenesis of Autoimmune Lymphoproliferative Syndrome (ALPS).

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American Society of Hematology

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American Society of Hematology

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