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  1. Book ; Thesis: GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling

    Welte, Corinna Sarah

    2018  

    Author's details vorgelegt von Corinna Sarah Welte, geb. Koch
    Language English
    Size 25 Blätter, Blatt 345-353, Illustrationen, Diagramme, 30 cm
    Publishing place Hannover
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Medizinische Hochschule Hannover, 2018
    Note Enthält 1 Sonderabdruck
    HBZ-ID HT019892349
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2018 E 1492 order for loan Magazin

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  2. Article: Severe congenital neutropenia due to jagunal homolog 1 (

    Thomas, Sanya / Guenther, Geoffrey / Rowe, Jared H / Platt, Craig D / Shimamura, Akiko / Levy, Ofer / Ganapathi, Lakshmi

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1223191

    Abstract: Severe congenital neutropenia caused by jagunal homolog 1 ( ...

    Abstract Severe congenital neutropenia caused by jagunal homolog 1 (
    Language English
    Publishing date 2023-07-17
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1223191
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Individualized Treatment Approach for Rectal Adenocarcinoma in the Setting of Congenital Neutropenia.

    Forneris, Nicole W / Chedid, Solly

    Cureus

    2024  Volume 16, Issue 3, Page(s) e56383

    Abstract: ... Here, we present a patient treated for rectal carcinoma in the setting of severe congenital neutropenia. ... Congenial neutropenia is a rare genetic disorder that puts individuals at risk of life-threatening ...

    Abstract Congenial neutropenia is a rare genetic disorder that puts individuals at risk of life-threatening bacterial infections early in life, and the current standard of care includes the use of colony-stimulating factors or curative intent bone marrow transplant. Cancer treatment strategies that include surgery, chemotherapy, radiation, and immunotherapy present significant challenges to an individual with a baseline immunodeficiency as seen in this condition. Evidence-based national guidelines aid physicians and patients in moving through complex cancer care regimens. However, these are altered when the intensity of the patient's comorbidities puts them at increased risk of developing a potentially life-threatening infection. Here, we present a patient treated for rectal carcinoma in the setting of severe congenital neutropenia.
    Language English
    Publishing date 2024-03-18
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.56383
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  4. Article ; Online: Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring

    Zeidler, Alexander / Borbaran-Bravo, Natalia / Dannenmann, Benjamin / Ritter, Malte / Nasri, Masoud / Klimiankou, Maksim / Kandabarau, Sergey / Zahabi, Azadeh / König, Josef / Zeidler, Cornelia / Skokowa, Julia / Welte, Karl

    Haematologica

    2024  Volume 109, Issue 5, Page(s) 1393–1402

    Abstract: ... for most cyclic neutropenia (CyN) cases and approximately 25% of congenital neutropenia (CN) cases. In CN ...

    Abstract Mutations in the ELANE gene, encoding the neutrophil elastase (NE) protein, are responsible for most cyclic neutropenia (CyN) cases and approximately 25% of congenital neutropenia (CN) cases. In CN and in CyN, a median of 2.8% of CD34+ cells were early CD49f+ hematopoietic stem cells (eHSC) that did not express ELANE and thus escape from the unfolded protein response (UPR) caused by mutated NE. In CyN, the CD49f+ cells respond to granulocyte colony-stimulating factor (G-CSF) with a significant upregulation of the hematopoietic stem cell-specific transcription factors, C/EBPα, MLL1, HOXA9, MEIS1, and HLF during the ascending arm of the cycle, resulting in the differentiation of myeloid cells to mature neutrophils at the cycle peak. However, NE protein released by neutrophils at the cycle's peak caused a negative feedback loop on granulopoiesis through the proteolytic digestion of G-CSF. In contrast, in CN patients, CD49f+ cells failed to express mRNA levels of HSC-specific transcription factors mentioned above. Rescue of C/EBPα expression in CN restored granulopoiesis.
    MeSH term(s) Humans ; Leukocyte Elastase/genetics ; Leukocyte Elastase/metabolism ; Neutropenia/congenital ; Neutropenia/genetics ; Neutropenia/metabolism ; Mutation ; Hematopoiesis/genetics ; Gene Expression Regulation ; Hematopoietic Stem Cells/metabolism ; Hematopoietic Stem Cells/cytology ; Transcription, Genetic ; Granulocyte Colony-Stimulating Factor/metabolism ; Neutrophils/metabolism ; Male ; Congenital Bone Marrow Failure Syndromes/genetics ; Congenital Bone Marrow Failure Syndromes/pathology ; Female
    Chemical Substances Leukocyte Elastase (EC 3.4.21.37) ; ELANE protein, human (EC 3.4.21.37) ; Granulocyte Colony-Stimulating Factor (143011-72-7)
    Language English
    Publishing date 2024-05-01
    Publishing country Italy
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2333-4
    ISSN 1592-8721 ; 0017-6567 ; 0390-6078
    ISSN (online) 1592-8721
    ISSN 0017-6567 ; 0390-6078
    DOI 10.3324/haematol.2023.284033
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Uh III Zs.76: Show issues Location:
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  5. Article ; Online: Homozygous DBF4 mutation as a cause of severe congenital neutropenia.

    Willemsen, Mathijs / Barber, John S / Nieuwenhove, Erika Van / Staels, Frederik / Gerbaux, Margaux / Neumann, Julika / Prezzemolo, Teresa / Pasciuto, Emanuela / Lagou, Vasiliki / Boeckx, Nancy / Filtjens, Jessica / De Visscher, Amber / Matthys, Patrick / Schrijvers, Rik / Tousseyn, Thomas / O'Driscoll, Mark / Bucciol, Giorgia / Schlenner, Susan / Meyts, Isabelle /
    Humblet-Baron, Stephanie / Liston, Adrian

    The Journal of allergy and clinical immunology

    2023  Volume 152, Issue 1, Page(s) 266–277

    Abstract: Background: Severe congenital neutropenia presents with recurrent infections early in life ... to characterize a patient with severe congenital neutropenia and syndromic features without a genetic diagnosis ... in a patient with mild extra-uterine growth retardation, facial dysmorphism and severe congenital neutropenia ...

    Abstract Background: Severe congenital neutropenia presents with recurrent infections early in life as a result of arrested granulopoiesis. Multiple genetic defects are known to block granulocyte differentiation; however, a genetic cause remains unknown in approximately 40% of cases.
    Objective: We aimed to characterize a patient with severe congenital neutropenia and syndromic features without a genetic diagnosis.
    Methods: Whole exome sequencing results were validated using flow cytometry, Western blotting, coimmunoprecipitation, quantitative PCR, cell cycle and proliferation analysis of lymphocytes and fibroblasts and granulocytic differentiation of primary CD34
    Results: We identified a homozygous missense mutation in DBF4 in a patient with mild extra-uterine growth retardation, facial dysmorphism and severe congenital neutropenia. DBF4 is the regulatory subunit of the CDC7 kinase, together known as DBF4-dependent kinase (DDK), the complex essential for DNA replication initiation. The DBF4 variant demonstrated impaired ability to bind CDC7, resulting in decreased DDK-mediated phosphorylation, defective S-phase entry and progression and impaired differentiation of granulocytes associated with activation of the p53-p21 pathway. The introduction of wild-type DBF4 into patient CD34
    Conclusion: Hypomorphic DBF4 mutation causes autosomal-recessive severe congenital neutropenia with syndromic features.
    MeSH term(s) Humans ; Cell Cycle Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Mutation ; Phosphorylation
    Chemical Substances Cell Cycle Proteins ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Saccharomyces cerevisiae Proteins ; CDC7 protein, human (EC 2.7.1.-) ; DBF4 protein, human
    Language English
    Publishing date 2023-02-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.02.016
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  6. Article ; Online: Human 'knockouts' of CSF3 display severe congenital neutropenia.

    Khouj, Ebtissal / Marafi, Dana / Aljamal, Bayan / Hajiya, Anwar / Elshafie, Reem M / Hashem, Mais O / Abdulwahab, Firdous / Jaafar, Amal / Alshidi, Tarfa / Aboelanine, Ashraf H / Awaji, Ali / Alkuraya, Fowzan S

    British journal of haematology

    2023  Volume 203, Issue 3, Page(s) 477–480

    Abstract: ... recombinant forms have been used clinically for decades to treat congenital and acquired neutropenia ... Although biallelic inactivation of its receptor CSF3R is a well-established cause of severe congenital neutropenia ...

    Abstract Colony-stimulating factor 3 (CSF3) is a key factor in neutrophil production and function, and recombinant forms have been used clinically for decades to treat congenital and acquired neutropenia. Although biallelic inactivation of its receptor CSF3R is a well-established cause of severe congenital neutropenia (SCN), no corresponding Mendelian disease has been ascribed to date to CSF3. Here, we describe three patients from two families each segregating a different biallelic inactivating variant in CSF3 with SCN. Complete deficiency of CSF3 as a result of nonsense-mediated decay (NMD) could be demonstrated on RT-PCR using skin fibroblasts-derived RNA. The phenotype observed in this cohort mirrors that documented in mouse and zebrafish models of CSF3 deficiency. Our results suggest that CSF3 deficiency in humans causes a novel autosomal recessive form of SCN.
    Language English
    Publishing date 2023-08-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.19054
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  7. Article ; Online: Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report.

    Kim, Juhyung / Hwang, Soyoon / Hwang, Narae / Lee, Yeonji / Cho, Hee Jeong / Moon, Joon Ho / Sohn, Sang Kyun / Baek, Dong Won

    Journal of Yeungnam medical science

    2022  Volume 40, Issue 3, Page(s) 283–288

    Abstract: Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic ... However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic ... idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man ...

    Abstract Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
    Language English
    Publishing date 2022-07-28
    Publishing country Korea (South)
    Document type Case Reports
    ISSN 2799-8010
    ISSN (online) 2799-8010
    DOI 10.12701/jyms.2022.00353
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  8. Article ; Online: Neutrophil Elastase Defects in Congenital Neutropenia.

    Rydzynska, Zuzanna / Pawlik, Bartlomiej / Krzyzanowski, Damian / Mlynarski, Wojciech / Madzio, Joanna

    Frontiers in immunology

    2021  Volume 12, Page(s) 653932

    Abstract: Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic ...

    Abstract Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic background. Neutrophil elastase (NE) encoded by
    MeSH term(s) Congenital Bone Marrow Failure Syndromes/diagnosis ; Congenital Bone Marrow Failure Syndromes/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Leukocyte Elastase/chemistry ; Leukocyte Elastase/deficiency ; Leukocyte Elastase/genetics ; Leukocyte Elastase/metabolism ; Mutation ; Neutropenia/congenital ; Neutropenia/diagnosis ; Neutropenia/genetics ; Neutrophils/enzymology ; Protein Processing, Post-Translational ; Protein Transport ; Signal Transduction ; Structure-Activity Relationship
    Chemical Substances Leukocyte Elastase (EC 3.4.21.37)
    Language English
    Publishing date 2021-04-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2021.653932
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  9. Article ; Online: Identification of GFI1 mutations in adult patients with congenital neutropenia.

    Boutakoglou, Erasmia / Klimiankou, Maksim / Tsaknakis, Grigorios / Drakos, Elias / Skokowa, Julia / Papadaki, Helen A

    Annals of hematology

    2022  Volume 101, Issue 12, Page(s) 2771–2773

    MeSH term(s) Adult ; Humans ; Congenital Bone Marrow Failure Syndromes/genetics ; Neutropenia/genetics ; Neutropenia/congenital ; Mutation ; DNA-Binding Proteins/genetics ; Transcription Factors/genetics
    Chemical Substances GFI1 protein, human ; DNA-Binding Proteins ; Transcription Factors
    Language English
    Publishing date 2022-09-16
    Publishing country Germany
    Document type Letter
    ZDB-ID 1064950-5
    ISSN 1432-0584 ; 0939-5555 ; 0945-8077
    ISSN (online) 1432-0584
    ISSN 0939-5555 ; 0945-8077
    DOI 10.1007/s00277-022-04977-7
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  10. Article ; Online: Congenital Neutropenia with ELANE Gene Mutation Complicated with MPO-ANCA Positivity.

    Zhang, Yudi / Liu, Jingqi / Li, Yongzhen / Wu, Xiaochuan

    Indian journal of pediatrics

    2023  Volume 91, Issue 1, Page(s) 96

    MeSH term(s) Humans ; Antibodies, Antineutrophil Cytoplasmic/genetics ; Mutation ; Congenital Bone Marrow Failure Syndromes/genetics ; Neutropenia/genetics ; Neutropenia/congenital
    Chemical Substances Antibodies, Antineutrophil Cytoplasmic
    Language English
    Publishing date 2023-10-02
    Publishing country India
    Document type Letter
    ZDB-ID 218231-2
    ISSN 0973-7693 ; 0019-5456
    ISSN (online) 0973-7693
    ISSN 0019-5456
    DOI 10.1007/s12098-023-04871-8
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