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Journal Articles

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Blood (2024) 144 (1): 35–45.

https://doi.org/10.1182/blood.2023022658

Published: 2024

Includes: Supplemental data

Journal Articles

Prospective and Retrospective Observational Study in Adult and Pediatric Patients with GATA2 Variants (GATA2 Deficiency)

Blood (2022) 140 (Supplement 1): 2957–2959.

https://doi.org/10.1182/blood-2022-168771

Published: 2022

Journal Articles

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Blood (2021) 138 (Supplement 1): 4310.

https://doi.org/10.1182/blood-2021-153346

Published: 2021

Journal Articles

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood (2021) 137 (4): 493–499.

https://doi.org/10.1182/blood.2020006441

Published: 2021

Includes: Supplemental data

Journal Articles

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

Raffaele Badolato, Jean Donadieu, the WHIM Research Group

Blood (2017) 130 (23): 2491–2498.

https://doi.org/10.1182/blood-2017-02-708552

Published: 2017

Journal Articles

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

Alberto Prandini, Valentina Salvi, Francesca Colombo, Daniele Moratto, Luisa Lorenzi, William Vermi, Maria Antonia De Francesco, Lucia Dora Notarangelo, Fulvio Porta, Alessandro Plebani, Fabio Facchetti, Silvano Sozzani, Raffaele Badolato

Blood (2016) 127 (26): 3382–3386.

https://doi.org/10.1182/blood-2015-06-650689

Published: 2016

Includes: Supplemental data

Journal Articles

The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse

Marinos Kallikourdis, Anna Elisa Trovato, Fabio Anselmi, Adelaida Sarukhan, Giuliana Roselli, Laura Tassone, Raffaele Badolato, Antonella Viola

Blood (2013) 122 (5): 666–673.

https://doi.org/10.1182/blood-2012-10-461830

Published: 2013

Includes: Multimedia, Supplemental data

Journal Articles

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome

Raffaele Badolato, Alberto Prandini, Sonia Caracciolo, Francesca Colombo, Giovanna Tabellini, Mauro Giacomelli, Maria E. Cantarini, Andrea Pession, Callum J. Bell, Darrell L. Dinwiddie, Neil A. Miller, Shannon L. Hateley, Carol J. Saunders, Lu Zhang, Gary P. Schroth, Alessandro Plebani, Silvia Parolini, Stephen F. Kingsmore

Blood (2012) 119 (13): 3185–3187.

https://doi.org/10.1182/blood-2012-01-404350

Published: 2012

Includes: Supplemental data

Journal Articles

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

Donatella Vairo, Laura Tassone, Giovanna Tabellini, Nicola Tamassia, Sara Gasperini, Flavia Bazzoni, Alessandro Plebani, Fulvio Porta, Luigi D. Notarangelo, Silvia Parolini, Silvia Giliani, Raffaele Badolato

Blood (2011) 118 (7): 1806–1817.

https://doi.org/10.1182/blood-2011-01-330571

Published: 2011

Includes: Supplemental data

Journal Articles

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

Laura Tassone, Daniele Moratto, William Vermi, Maria De Francesco, Lucia D. Notarangelo, Fulvio Porta, Vassilios Lougaris, Fabio Facchetti, Alessandro Plebani, Raffaele Badolato

Blood (2010) 116 (23): 4870–4873.

https://doi.org/10.1182/blood-2010-03-272096

Published: 2010

Includes: Supplemental data

Journal Articles

Response: ELA2 genotype-phenotype correlation to be expected in patients with severe congenital neutropenia

Raffaele Badolato, Marta Donini, Gianfranco Savoldi, Stefano Dusi

Blood (2007) 110 (7): 2773–2774.

https://doi.org/10.1182/blood-2007-04-085951

Published: 2007

Journal Articles

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms

Marta Donini, Stefania Fontana, Gianfranco Savoldi, William Vermi, Laura Tassone, Francesca Gentili, Elena Zenaro, Daniela Ferrari, Lucia D. Notarangelo, Fulvio Porta, Fabio Facchetti, Luigi D. Notarangelo, Stefano Dusi, Raffaele Badolato

Blood (2007) 109 (11): 4716–4723.

https://doi.org/10.1182/blood-2006-09-045427

Published: 2007

Journal Articles

A 17q25.3 Duplication Defines a New Dosage-Sensitive Congenital Neutropenia Locus and Implicates SOCS3 as a Candidate Gene for Cases Unexplained by ELA2 Mutation.

Matthew E. Mealiffe, MD, Doan Le, MD, Zhijun Duan, PhD, Helen Papadaki, MD, George Eliopoulos, MD, Raffaele Badolato, MD,PhD, Marshall S. Horwitz, MD,PhD

Blood (2006) 108 (11): 1277.

https://doi.org/10.1182/blood.V108.11.1277.1277

Published: 2006

Journal Articles

Neutropenia-Associated Mutations of PFAAP5, a Novel Protein Mediating Transcriptional Repressor Interaction between Gfi1 and Neutrophil Elastase.

Stephen J. Salipante, BS, Kathleen F. Benson, PhD, Richard E. Person, PhD, Raffaele Badolato, MD,PhD, Marshall S. Horwitz, MD, PhD

Blood (2006) 108 (11): 501.

https://doi.org/10.1182/blood.V108.11.501.501

Published: 2006

Journal Articles

Neutropenia-Associated Mutations in PRDM5, a Novel Epigenetic Regulator of Hematopoiesis.

Zhijun Duan, PhD, Shi Huang, PhD, Richard E. Person, PhD, Raffaele Badolato, MD,PhD, Jean Donadieu, MD,PhD, Marshall S. Horwitz, MD,PhD

Blood (2006) 108 (11): 503.

https://doi.org/10.1182/blood.V108.11.503.503

Published: 2006

Journal Articles

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Stefania Fontana, Silvia Parolini, William Vermi, Sarah Booth, Federico Gallo, Marta Donini, Marzia Benassi, Francesca Gentili, Daniela Ferrari, Lucia D. Notarangelo, Patrizia Cavadini, Emanuela Marcenaro, Stefano Dusi, Marco Cassatella, Fabio Facchetti, Gillian M. Griffiths, Alessandro Moretta, Luigi D. Notarangelo, Raffaele Badolato

Blood (2006) 107 (12): 4857–4864.

https://doi.org/10.1182/blood-2005-11-4398

Published: 2006

Journal Articles

Role of dendritic cell–derived CXCL13 in the pathogenesis of Bartonella henselae B-rich granuloma

William Vermi, Fabio Facchetti, Elena Riboldi, Holger Heine, Sara Scutera, Sarah Stornello, Daniela Ravarino, Paola Cappello, Mirella Giovarelli, Raffaele Badolato, Mario Zucca, Francesca Gentili, Marco Chilosi, Claudio Doglioni, Alessandro Negro Ponzi, Silvano Sozzani, Tiziana Musso

Blood (2006) 107 (2): 454–462.

https://doi.org/10.1182/blood-2005-04-1342

Published: 2006

Includes: Supplemental data

Journal Articles

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

Anna Virginia Gulino, Daniele Moratto, Silvano Sozzani, Patrizia Cavadini, Karel Otero, Laura Tassone, Luisa Imberti, Silvia Pirovano, Lucia D. Notarangelo, Roberta Soresina, Evelina Mazzolari, David L. Nelson, Luigi D. Notarangelo, Raffaele Badolato

Blood (2004) 104 (2): 444–452.

https://doi.org/10.1182/blood-2003-10-3532

Published: 2004

Journal Articles

Functional defects of dendritic cells in patients with CD40 deficiency

Stefania Fontana, Daniele Moratto, Surinder Mangal, Maria De Francesco, William Vermi, Simona Ferrari, Fabio Facchetti, Necil Kutukculer, Claudia Fiorini, Marzia Duse, Pranab K. Das, Luigi D. Notarangelo, Alessandro Plebani, Raffaele Badolato

Blood (2003) 102 (12): 4099–4106.

https://doi.org/10.1182/blood-2003-04-1244

Published: 2003

Journal Articles

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

Fabio Candotti, Scott A. Oakes, James A. Johnston, Silvia Giliani, Richard F. Schumacher, Patrizia Mella, Maurilia Fiorini, Alberto G. Ugazio, Raffaele Badolato, Luigi D. Notarangelo, Fabio Bozzi, Paolo Macchi, Dario Strina, Paolo Vezzoni, R. Michael Blaese, John J. O'Shea, Anna Villa

Blood (1997) 90 (10): 3996–4003.

https://doi.org/10.1182/blood.V90.10.3996

Published: 1997

NARROW

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Prospective and Retrospective Observational Study in Adult and Pediatric Patients with GATA2 Variants (GATA2 Deficiency)

Global Phase 3, Randomized, Placebo-Controlled Trial with Open-Label Extension Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients with WHIM Syndrome (4WHIM): Trial Design and Enrollment

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

Response: ELA2 genotype-phenotype correlation to be expected in patients with severe congenital neutropenia

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms

A 17q25.3 Duplication Defines a New Dosage-Sensitive Congenital Neutropenia Locus and Implicates SOCS3 as a Candidate Gene for Cases Unexplained by ELA2 Mutation.

Neutropenia-Associated Mutations of PFAAP5, a Novel Protein Mediating Transcriptional Repressor Interaction between Gfi1 and Neutrophil Elastase.

Neutropenia-Associated Mutations in PRDM5, a Novel Epigenetic Regulator of Hematopoiesis.

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

Role of dendritic cell–derived CXCL13 in the pathogenesis of Bartonella henselae B-rich granuloma

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

Functional defects of dendritic cells in patients with CD40 deficiency

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

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American Society of Hematology

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American Society of Hematology

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