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Clinical implications of ELA2‐, HAX1‐, and G‐CSF‐receptor (CSF3R) mutations in severe congenital neutropenia

British journal of haematology, 2009-02, Vol.144 (4), p.459-467

2009

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Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Annals of the New York Academy of Sciences, 2011-12, Vol.1242 (1), p.40-55

2011

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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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Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia

Annals of the New York Academy of Sciences, 2016-04, Vol.1370 (1), p.119-125

2016

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P458: HIPSC DISEASE MODELING TO STUDY LEUKEMIA DEVELOPMENT IN HAX1 VS ELANE ASSOCIATED CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e39781cd-n/a

2023

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Neutropenie im Kindesalter

Monatsschrift Kinderheilkunde, 2021-07, Vol.169 (7), p.659-669

2021

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P750: A ZEBRAFISH MODEL FOR JAGN1‐ASSOCIATED SEVERE CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e69758f3-n/a

2023

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Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia

Frontiers in immunology, 2019-02, Vol.10, p.116-116

2019

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Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis

Nature medicine, 2012-10, Vol.18 (10), p.1550-1559

2012

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Neutropenie im Kindesalter

Best practice onkologie, 2021-11, Vol.16 (11), p.532-543

2021

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A lack of secretory leukocyte protease inhibitor (SLPI) causes defects in granulocytic differentiation

Blood, 2014-02, Vol.123 (8), p.1239-1249

2014

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LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Nature medicine, 2006-10, Vol.12 (10), p.1191-1197

2006

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P751: UNRAVELING THE DIFFERENT PATHOMECHANISMS OF CONGENITAL AND CYCLIC NEUTROPENIAS: CYCLIC EXPRESSION OF HEMATOPOIETIC STEM‐CELL‐SPECIFIC TRANSCRIPTION FACTORS IN CYCLIC NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e07619ff-n/a

2023

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LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Nature medicine, 2006-10, Vol.12 (10), p.1191-1197

2006

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P780: G‐CSF THERAPY IN EUROPEAN PATIENTS WITH SHWACHMAN‐DIAMOND SYNDROME

HemaSphere, 2023-08, Vol.7 (S3), p.e479202f-n/a

2023

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Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

Blood, 2006-07, Vol.108 (2), p.493-500

2006

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Severe Congenital Neutropenia

Hematology/oncology clinics of North America, 2009-04, Vol.23 (2), p.307-320

2009

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Digenic mutations in severe congenital neutropenia

Haematologica (Roma), 2010-07, Vol.95 (7), p.1207-1210

2010

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S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

HemaSphere, 2023-08, Vol.7 (S3), p.e9362349-n/a

2023

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P1357: MILESTONE (MODIFYING ELANE GOLDBERG–HOGNES BOX TO INHIBIT EXPRESSION), A UNIVERSAL, SAFE AND EFFECTIVE CRISPR/CAS9N‐MEDIATED GENOME EDITING STRATEGY FOR ELANE RELATED SEVERE CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e7685678-n/a

2023

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Bortezomib inhibits STAT5-dependent degradation of LEF-1, inducing granulocytic differentiation in congenital neutropenia CD34+ cells

Blood, 2014-04, Vol.123 (16), p.2550-2561

2014

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P779: LONG‐TERM COURSE OF HAX1‐RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

HemaSphere, 2023-08, Vol.7 (S3), p.e462517e-n/a

2023

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Schwere chronische Neutropenien — ein Update

Pädiatrie : Kinder- und Jugendmedizin hautnah, 2015-12, Vol.27 (6), p.38-43

Zeidler, Cornelia

2015

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Severe chronic neutropenia: Treatment and follow‐up of patients in the Severe Chronic Neutropenia International Registry

American journal of hematology, 2003-02, Vol.72 (2), p.82-93

2003

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Clinical implications of ELA2‐, HAX1‐, and G‐CSF‐receptor (CSF3R) mutations in severe congenital neutropenia

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

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

Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia

P458: HIPSC DISEASE MODELING TO STUDY LEUKEMIA DEVELOPMENT IN HAX1 VS ELANE ASSOCIATED CONGENITAL NEUTROPENIA

Neutropenie im Kindesalter

P750: A ZEBRAFISH MODEL FOR JAGN1‐ASSOCIATED SEVERE CONGENITAL NEUTROPENIA

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia

Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis

Neutropenie im Kindesalter

A lack of secretory leukocyte protease inhibitor (SLPI) causes defects in granulocytic differentiation

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

P751: UNRAVELING THE DIFFERENT PATHOMECHANISMS OF CONGENITAL AND CYCLIC NEUTROPENIAS: CYCLIC EXPRESSION OF HEMATOPOIETIC STEM‐CELL‐SPECIFIC TRANSCRIPTION FACTORS IN CYCLIC NEUTROPENIA

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

P780: G‐CSF THERAPY IN EUROPEAN PATIENTS WITH SHWACHMAN‐DIAMOND SYNDROME

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

Severe Congenital Neutropenia

Digenic mutations in severe congenital neutropenia

S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

P1357: MILESTONE (MODIFYING ELANE GOLDBERG–HOGNES BOX TO INHIBIT EXPRESSION), A UNIVERSAL, SAFE AND EFFECTIVE CRISPR/CAS9N‐MEDIATED GENOME EDITING STRATEGY FOR ELANE RELATED SEVERE CONGENITAL NEUTROPENIA

The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet‐INNOCHRON COST Action

Bortezomib inhibits STAT5-dependent degradation of LEF-1, inducing granulocytic differentiation in congenital neutropenia CD34+ cells

P779: LONG‐TERM COURSE OF HAX1‐RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

Schwere chronische Neutropenien — ein Update

Severe chronic neutropenia: Treatment and follow‐up of patients in the Severe Chronic Neutropenia International Registry

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