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An update on the diagnosis and treatment of chronic idiopathic neutropenia

Current opinion in hematology, 2017-01, Vol.24 (1), p.46-53

2017

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Somatic mutations and clonal hematopoiesis in congenital neutropenia

Blood, 2018-01, Vol.131 (4), p.408-416

2018

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Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy

British journal of haematology, 2010-07, Vol.150 (2), p.196-199

2010

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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

British journal of haematology, 2009-11, Vol.147 (4), p.535-542

2009

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The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

Blood, 2006-06, Vol.107 (12), p.4628-4635

2006

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Neutropenia in Barth syndrome: characteristics, risks, and management

Current opinion in hematology, 2019-01, Vol.26 (1), p.6-15

2019

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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

British journal of haematology, 2008-01, Vol.140 (2), p.210-213

2008

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Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction

Pediatric blood & cancer, 2015-07, Vol.62 (7), p.1228-1231

2015

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Granulocytic Precursors from Patients with ELA2-Mutant Severe Congenital Neutropenia Display a Transcriptional Profile Consistent with Activation of the Unfolded Protein Response

Blood, 2007-11, Vol.110 (11), p.662-662

2007

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The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Commentary

Blood, 2006, Vol.107 (12)

2006

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Genetic and Phenotypically Heterogeneity of Patients with Congenital Neutropenia

Blood, 2005-11, Vol.106 (11), p.95-95

2005

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The Incidence of Leukemia and Mortality from Sepsis in Patients with Severe Congenital Neutropenia Receiving Long-Term G-CSF Therapy

Blood, 2005-11, Vol.106 (11), p.669-669

2005

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Quality of life of patients with severe chronic neutropenia receiving long-term treatment with granulocyte colony-stimulating factor

JAMA : the journal of the American Medical Association, 1993-09, Vol.270 (9), p.1132

1993

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Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

The Journal of pediatrics, 2014-04, Vol.164 (4), p.866-870

2014

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Modeling TCIRG1 Neutropenia By Utilizing Patient Derived Induced Pluripotent Stem Cells

Blood, 2023-11, Vol.142 (Supplement 1), p.933-933

2023

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Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

Blood, 2020-12, Vol.136 (26), p.2994-3003

2020

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Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Blood, 2022-02, Vol.139 (5), p.779-791

2022

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Novel TCIRG1 Mutations Causing Congenital Neutropenia

Blood, 2022-11, Vol.140 (Supplement 1), p.8334-8335

2022

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The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

Current opinion in hematology, 2015-01, Vol.22 (1), p.3-11

2015

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Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia

The New England journal of medicine, 2017-12, Vol.377 (23), p.2290-2292

2017

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P755: STUDIES OF THE SPECIFIC TCIRG1 MUTATIONS CAUSING CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e948596e-n/a

2023

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The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

Blood, 2011-11, Vol.118 (18), p.4963-4966

2011

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Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome

Current opinion in hematology, 2020-01, Vol.27 (1), p.11-17

2020

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Elastase inhibitors as potential therapies for ELANE‐associated neutropenia

Journal of leukocyte biology, 2017-10, Vol.102 (4), p.1143-1151

2017

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An update on the diagnosis and treatment of chronic idiopathic neutropenia

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

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

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

Neutropenia in Barth syndrome: characteristics, risks, and management

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction

Granulocytic Precursors from Patients with ELA2-Mutant Severe Congenital Neutropenia Display a Transcriptional Profile Consistent with Activation of the Unfolded Protein Response

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Commentary

Genetic and Phenotypically Heterogeneity of Patients with Congenital Neutropenia

The Incidence of Leukemia and Mortality from Sepsis in Patients with Severe Congenital Neutropenia Receiving Long-Term G-CSF Therapy

Quality of life of patients with severe chronic neutropenia receiving long-term treatment with granulocyte colony-stimulating factor

Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

Modeling TCIRG1 Neutropenia By Utilizing Patient Derived Induced Pluripotent Stem Cells

Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Novel TCIRG1 Mutations Causing Congenital Neutropenia

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia

P755: STUDIES OF THE SPECIFIC TCIRG1 MUTATIONS CAUSING CONGENITAL NEUTROPENIA

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome

Elastase inhibitors as potential therapies for ELANE‐associated neutropenia

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