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Journal articles on the topic 'ELANE mutation'

Author: Grafiati
Published: 9 October 2021
Last updated: 30 July 2025

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1

Olofsen, Patricia, Paulette van Strien, Onno Roovers, et al. "PML Plays a Key Role in Severe Congenital Neutropenia with Mutant ELANE Causing Neutrophil Elastase Protein Misfolding." Blood 134, Supplement_1 (2019): 213. http://dx.doi.org/10.1182/blood-2019-122423.

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Introduction: Severe congenital neutropenia (SCN) is a genetically heterogeneous disease characterized by recurrent infections and a predisposition for malignant transformation. A wide variety of autosomal dominant or sporadic mutations in ELANE encoding neutrophil elastase (NE) are the most frequent cause of SCN, whereas recessive mutations in HAX1 are responsible for the autosomal recessive form of SCN known as Kostmann syndrome. How ELANE and HAX1 mutations cause SCN is still unclear. A prevailing hypothesis is that cellular stresses either caused by protein misfolding or malfunction in the
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2

Okolo, Onyemaechi N., Emmanuel Katsanis, Seongseok Yun, Candace Y. Reveles, and Faiz Anwer. "Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events." Case Reports in Hematology 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/5375793.

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Objective and Importance.Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection.Case.A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretrans
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3

Arun, A. Kumar, Anandan Senthamizhselvi, Suresh Hemamalini, et al. "Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin." Journal of Clinical Pathology 71, no. 12 (2018): 1046–50. http://dx.doi.org/10.1136/jclinpath-2018-205235.

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AimsCongenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia is genetically heterogeneous with mutations in genes like ELANE, HAX-1, G6PC3 and GFI1. The presence of ELANE mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia such as autoimmune cytopenia and evolving aplasia. Further, patients with ELANE mutations are also at a high risk of
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4

Nanua, Suparna, Mark Murakami, Jun Xia, et al. "Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane." Blood 117, no. 13 (2011): 3539–47. http://dx.doi.org/10.1182/blood-2010-10-311704.

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Abstract Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis that in many cases is caused by mutations of the ELANE gene, which encodes neutrophil elastase (NE). Recent data suggest a model in which ELANE mutations result in NE protein misfolding, induction of endoplasmic reticulum (ER) stress, activation of the unfolded protein response (UPR), and ultimately a block in granulocytic differentiation. To test this model, we generated transgenic mice carrying a targeted mutation of Elane (G193X) reproducing a mutation found in SCN. The G193X Elane allele produces a truncat
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5

Nasri, Masoud, Benjamin Dannenmann, Perihan Mir, et al. "Disease Modeling of Severe Congenital Neutropenia Using CRISPR/Cas9 Gene Correction or Knockout of ELANE in Patients Derived Induced Pluripotent Stem Cells." Blood 134, Supplement_1 (2019): 434. http://dx.doi.org/10.1182/blood-2019-129991.

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Severe congenital neutropenia (CN) is a monogenic bone marrow failure syndrome with the frequency of 1:200,000 and is characterized by an absolute neutrophil count below 500 cells per microliter. Patients with CN suffer from severe life-threatening bacterial infections starting early after birth due to the absent or very low numbers of neutrophils in peripheral blood. While CN is a heterogeneous disease caused by many different gene mutations, autosomal-dominant ELANE mutations are the most common cause of CN. Although the majority of CN patients respond to daily treatment with granulocyte col
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6

Skokowa, Julia, Olga Klimenkova, Maksim Klimiankou, et al. "Mutations in the TNFRSF1A, CEBPE and ELANE genes in a Congenital Cyclic Neutropenia Patient: A New Syndrome?" Blood 120, no. 21 (2012): 11. http://dx.doi.org/10.1182/blood.v120.21.11.11.

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Abstract Abstract 11 Cyclic neutropenia (CyN) is a hematologic disorder in which blood cell counts particularly granulocytic neutrophil numbers show cycles at 21 day intervals. The majority of CyN patients (ca 90 %) harbor inherited mutations in the ELANE gene. Intriguingly, same ELANE mutations are present in two different hematologic syndromes: congenital as well as in cyclic neutropenias. It is unclear how mutation in the same gene cause congenital or cyclic neutropenia. We aimed to identify genes which are exclusively mutated in cyclic or in congenital neutropenia additionaly to the ELANE
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7

Garg, Bhavuk, Hrishikesh M. Mehta, Borwyn Wang, Ralph Kamel, Marshall S. Horwitz, and Seth J. Corey. "Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response." Journal of Biological Chemistry 295, no. 21 (2020): 7492–500. http://dx.doi.org/10.1074/jbc.ra120.012366.

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Severe congenital neutropenia (SCN) is characterized by a near absence of neutrophils, rendering individuals with this disorder vulnerable to recurrent life-threatening infections. The majority of SCN cases arise because of germline mutations in the gene elastase, neutrophil-expressed (ELANE) encoding the neutrophil granule serine protease neutrophil elastase. Treatment with a high dose of granulocyte colony-stimulating factor increases neutrophil production and reduces infection risk. How ELANE mutations produce SCN remains unknown. The currently proposed mechanism is that ELANE mutations pro
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8

Olofsen, Patricia A., Dennis A. Bosch, Onno Roovers, et al. "PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations." Blood Advances 5, no. 3 (2021): 775–86. http://dx.doi.org/10.1182/bloodadvances.2020003214.

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Abstract Mutations in ELANE cause severe congenital neutropenia (SCN), but how they affect neutrophil production and contribute to leukemia predisposition is unknown. Neutropenia is alleviated by CSF3 (granulocyte colony-stimulating factor) therapy in most cases, but dose requirements vary between patients. Here, we show that CD34+CD45+ hematopoietic progenitor cells (HPCs) derived from induced pluripotent stem cell lines from patients with SCN that have mutations in ELANE (n = 2) or HAX1 (n = 1) display elevated levels of reactive oxygen species (ROS) relative to normal iPSC-derived HPCs. In
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9

Ritter, Malte U., Benjamin Secker, Maksim Klimiankou, et al. "Efficient Correction of ELANE mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/Cas9 and rAVV6 HDR Repair Templates." Blood 134, Supplement_1 (2019): 1036. http://dx.doi.org/10.1182/blood-2019-131708.

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Patients with the rare pre-leukemia bone marrow failure syndrome severe congenital neutropenia (CN) have reduced numbers of neutrophils in peripheral blood (<500/µl) leading to frequent infections and requiring chronic granulocyte stimulating factor (G-CSF) treatment. The majority of patients harbor heterogenous mutations in ELANE, coding for Neutrophil Elastase. Up to now, the only curative therapy for CN patients that do not respond to G-CSF or with overt AML remains hematopoietic stem cells transplantation with its associated risks. A clinical need for gene therapy for these patients is
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10

Zeidler, Cornelia, Peter Vandenberghe, Irina Schäfer, et al. "UPDATE On the RISK of SECONDARY LEUKEMIA In GENETIC SUBGROUPS (ELANE, HAX1, WAS, G6PC3, p14) of CONGENITAL NEUTROPENIA In EUROPE." Blood 118, no. 21 (2011): 1106. http://dx.doi.org/10.1182/blood.v118.21.1106.1106.

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Abstract Abstract 1106 Congenital neutropenia (CN) is well known as one of the premalignant bone marrow failure syndromes with an overall incidence of secondary leukemia of more than 10 percent. With the identification of new causative gene mutations the number of genetic subgroups is still increasing. Due to the limited patient numbers for each subgroup we re-assessed the incidence and potential risk factors of leukemic transformation in CN patients with known gene mutations in ELANE, HAX1, G6PT, G6PC3, WAS, SBDS, TAZ1 and p14 or no identified mutation, respectively, by analyzing all availabl
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11

Zeidler, Cornelia, Sabine Mellor-Heineke, Maksim Klimiankou, Julia Skokowa, and Karl Welte. "First Case of Leukemia in a Child Suffering from Cyclic Neutropenia with ELANE Mutation." Blood 126, no. 23 (2015): 997. http://dx.doi.org/10.1182/blood.v126.23.997.997.

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Congenital neutropenia (CN) and Cyclic neutropenia (CyN) are rare hematological conditions in which ELANE mutations have been found. The discrimination of Cyn from CN is based on the cycling neutrophil counts which decrease to <0.2 x 109/L, usually at 21 day intervals. Infectious episodes are typically less severe in CyN compared to infections in CN patients. While in patients suffering from ELANE-CN an increased risk of leukemic transformation of more than 10 percent is well documented, no AML has been reported in the European SCNIR cohort of 38 patients with ELANE -CYN so far. Here we rep
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12

Jia, Yue, Changjun Yue, Kathryn Bradford, Xin Qing, Eduard H. Panosyan, and Moran Gotesman. "Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review." Journal of Pediatric Genetics 09, no. 03 (2019): 203–6. http://dx.doi.org/10.1055/s-0039-3399523.

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AbstractSevere neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 109/L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which may lead to immunodeficiency. Among several associated genetic mutations, the variants or heterozygous mutations of the ELANE gene coding neutrophil elastase comprise approximately 50% of the genetic causes of SCN. We present a newborn (male) with severe neutropenia due to a novel ELANE gene mutation. The newborn was born at 386/7 weeks gestation to a 25-
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13

Klimiankou, Maksim, Cornelia Zeidler, Sabine Mellor-Heineke, et al. "Optimization of CSF3R Mutation Detection in Severe Congenital Neutropenia and Cyclic Neutropenia Patients for Routine Diagnostics Using Next Generation Sequencing." Blood 128, no. 22 (2016): 3685. http://dx.doi.org/10.1182/blood.v128.22.3685.3685.

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Abstract Severe congenital neutropenia (CN) is a group of bone marrow failure syndromes characterized by absolute neutrophil counts below 0.5x109/L, susceptibility to bacterial infections and frequently associated with maturation arrest at promyelocyte stage in the bone marrow (BM). There is a high incidence of malignant transformation among CN patients with a cumulative rate of MDS/AML 22 % after 15 years of G-CSF treatment. The acquisition of G-CSFR truncating mutations is a risk factor for leukemic transformation in CN patients. Therefore, annual monitoring of CSF3Rmutations by means of nex
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14

Hanan, A., S. Altaf, J. Safdar, A. Khan, and S. Sheikh-Fayyaz. "Severe Congenital Neutropenia with ELANE gene mutation, on G-CSF therapy; a case report." American Journal of Clinical Pathology 162, Supplement_1 (2024): S97. http://dx.doi.org/10.1093/ajcp/aqae129.215.

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Abstract Introduction/Objective Severe congenital neutropenia (SCN) is a genetic syndrome characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood. The disease is caused by various gene mutations, with ELANE gene mutations accounting for 50% to 60% of cases. Methods/Case Report We report a case of a 12-year-old male patient with severe congenital neutropenia, positive for the ELANE gene mutation. He has a history of recurrent infections and unexplained fevers since childhood. He has been receiving G-CSF treatment for ten years but is now exhibiting a diminish
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15

Joos, Margret, Akiko Shimamura, Timothy H. Chang, and Peter E. Newburger. "Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE: Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia." Blood 142, Supplement 1 (2023): 5661. http://dx.doi.org/10.1182/blood-2023-190110.

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Introduction Severe congenital neutropenia (SCN) is an inherited bone marrow failure condition most often caused by heterozygous mutations in the ELANE gene. While granulocyte colony stimulating factor (G-CSF) is effective in increasing neutrophil counts in the majority of patients, approximately 15% of patients do not respond, necessitating the creation of alternative treatment strategies. Due to its association with significant, life-threatening infections and heightened risk of progression to myelodysplastic syndrome and/or acute myeloid leukemia, SCN has been the focus of recent gene thera
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16

Link, Daniel C., Vahagn Makaryan, David H. Spencer, Jun Xia, Audrey Anna Bolyard, and David C. Dale. "Extended Genetic Testing in Severe Congenital Neutropenia May Identify Mutations That Inform Therapy." Blood 132, Supplement 1 (2018): 2401. http://dx.doi.org/10.1182/blood-2018-99-116712.

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Abstract The Severe Chronic Neutropenia International Registry (SCNIR) in cooperation with Washington University has developed a next-generation sequencing assay for the genetic diagnosis of chronic neutropenia. Exome-based sequencing is performed, and genetic alterations in 27 genes implicated in the pathogenesis of severe congenital neutropenia (SCN) are reported. Of note, with consent, patients are enrolled in the SCNIR to collect detailed clinical data and to allow researchers access to the exome sequence data to identify new genetic alterations contributing to disease pathogenesis, severi
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17

Damianidou, Labrini, Theodotis Papageorgiou, Athanasios Tragiannidis, et al. "Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings." Journal of Pediatric Genetics 08, no. 01 (2018): 033–37. http://dx.doi.org/10.1055/s-0038-1670724.

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AbstractWe describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously described in the literature at the exon coding level. Given the autosomal dominant inheritance and the location of the mutation within a “hotspot,” this mutation was considered as clinically relevant. ELANE should be screened in patients with congenital neutropenia of no obvious etiology. A detail
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18

Rydzynska, Zuzanna, Dawid Grzela, Monika I. Linder, et al. "CRISPR/Cas9 Strategy for Correcting ELANE Mutations and Restoring Neutrophil Differentiation in Severe Congenital Neutropenia: Insights from Patient-Derived iPSCs." Blood 142, Supplement 1 (2023): 4100. http://dx.doi.org/10.1182/blood-2023-188759.

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Introduction The ELANE gene, encoding neutrophil elastase (NE), has been identified as the primary causative gene for more than half of patients with severe congenital neutropenia (SCN). For patients refractory to standard therapy (G-CSF), the only available option is an allogeneic hematopoietic stem cell transplant. Therefore, there is a great clinical interest in the development of novel gene therapies, including CRISPR/Cas9, which has shown promise for the correction of ELANE mutations and the restoration of neutrophil function. Here, we introduce a gene editing strategy using CRISPR/Cas9 t
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19

Horwitz, Marshall S., Mercy Y. Laurino, and Siobán B. Keel. "Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation." Blood Advances 3, no. 16 (2019): 2470–73. http://dx.doi.org/10.1182/bloodadvances.2019000498.

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Key Points The patient reported here, along with collective observations in the literature, suggest that ELANE deletion does not cause neutropenia. Potential therapeutic genome editing involving knockout of the mutant ELANE allele is therefore not expected to produce neutropenia.
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Deordieva, Ekaterina A., Tatyana V. Varlamova, Elena V. Raikina, and Anna Yu Shcherbina. "Genetic predictors of an unfavorable course of severe congenital neutropenia in patients with ELANE gene mutation." Pediatric Hematology/Oncology and Immunopathology 15, no. 1 (2016): 41–45. https://doi.org/10.24287/1726-1708-2016-15-1-41-45.

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Severe congenital neutropenia (SCN) is a rare genetically determined disease with disruption of granulocyte maturation in bone marrow, resulting in a high risk of life-threatening infections. The disease is caused by ELANE gene mutation in the majority (60-80%) of patients. Our study confirms the data of the Severe Congenital Neutropenia International Registry: we have demonstrated an association of ELANE gene mutations (in C151 and G214 positions) with a particularly severe disease course, manifesting by resistance to therapy with granulocyte colony-stimulating factor and the development of m
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Klimiankou, Maksim, Olga Klimenkova, Lothar Kanz, Cornelia Zeidler, Karl Welte, and Julia Skokowa. "Time Course of Acquisition of a CSF3R Mutation and Subsequent Development of AML in a Patient with Cyclic Neutropenia." Blood 126, no. 23 (2015): 885. http://dx.doi.org/10.1182/blood.v126.23.885.885.

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Acquired CSF3R (colony stimulating factor 3 receptor, granulocyte) mutations have been detected with a high frequency (17-34%) in severe congenital neutropenia (CN) patients. Moreover, in CN patients who developed overt acute myeloid leukemia (AML) the frequency of CSF3R mutations in the intracellular critical region reaches more than 80%. Up to now there was no report on the detection of acquired mutations in CSF3R or development of AML/MDS in cyclic neutropenia patients (CyN). This group of patients reveals the same genotype with mutations in the ELANE gene as CN patients. In contrast, both
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22

Rao, Shuquan, Josias Brito-Frazao, Anna V. Serbin, et al. "Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia." Blood 134, Supplement_1 (2019): 3. http://dx.doi.org/10.1182/blood-2019-131073.

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Severe congenital neutropenia (SCN) is a life-threatening disorder of insufficient granulocytes. Lifelong granulocyte colony-stimulating factor (G-CSF) injections are the mainstay of treatment, yet there remains a high risk of myelodysplastic syndrome and acute myeloid leukemia. The most common etiology of SCN is germline ELANE mutation. These dominantly acting mutations preserve expression but alter the structure of the neutrophil elastase protein product resulting in altered protein folding and/or trafficking with excess cell death at the promyelocyte/myelocyte stage of maturation. Recent ad
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Tesakov, Ivan, Vahagn Makaryan, Audrey Anna Bolyard, et al. "Genotype-Phenotype Correlations in Patients with Severe Chronic Neutropenia Harboring ELANE Mutations: A Long-Term Study of the Severe Chronic Neutropenia International Registry." Blood 144, Supplement 1 (2024): 2530. https://doi.org/10.1182/blood-2024-210153.

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Autosomal dominant ELANE mutations are identified in the largest group of severe congenital neutropenia (CN) patients (pts) (ca. 30% of all cases) and in the large majority of pts with cyclic neutropenia (CyN). The predictive value of certain mutations for leukemogenesis and response to recombinant human granulocyte colony-stimulating factor (rhG-CSF) in CN and CyN are still limited. We analyzed data from 511 pts with different heterozygous ELANE mutations (334 CN, 177 CyN) plus 5 CyN pts with homozygous ELANE p.R220Q mutations. All pts were enrolled into the Severe Chronic Neutropenia Interna
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24

Tidwell, Timothy, Jeremy Wechsler, and Marshall S. Horwitz. "Novel Isoforms of Neutrophil Elastase Produced by Neutropenia-Associated Mutations of the Initiation Codon and an Internal Ribosomal Entry Site (IRES) of ELANE." Blood 120, no. 21 (2012): 9. http://dx.doi.org/10.1182/blood.v120.21.9.9.

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Abstract Abstract 9 Severe congenital neutropenia is most commonly caused by mutations in the gene, ELANE, encoding neutrophil elastase, through a mechanism that is not fully understood. Two prevalent hypotheses point to mislocalization of neutrophil elastase or, alternatively, endoplasmic reticulum (ER) stress resulting from protein misfolding. We have recently identified disease-causing mutations in the “Kozak” ribosome-binding sequence and the initiation codon that do not easily fit with either theory. In cell culture models of neutrophil elastase expression, we found that when the ribosome
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25

Solo, Dinai Lalnghinglovi, Likta N. Jimo, Don William K. Muti, and Namganglung Golmei. "ELANE gene mutation related cyclic neutropenia with childhood systemic lupus erythematosus: a case report." International Journal of Contemporary Pediatrics 11, no. 8 (2024): 1154–56. http://dx.doi.org/10.18203/2349-3291.ijcp20242032.

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ELANE related neutropenia includes congenital and cyclic neutropenia which are primary haematological disorders characterised by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis). A congenital cyclic neutropenia syndrome is a rare genetic disorder characterised by a cyclic reduction in the granulocyte proliferation pool in the bone marrow followed by the onset of neutropenia. Patients suffering from this disorder are susceptible to infections and clinically presents at early age. Patients having ELANE mutation combined with autoim
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26

Yilmaz Karapinar, Deniz, Zeynep Karakas, Turkan Patıroglu, et al. "Turkish National Severe Congenital Neutropenia Registry." Blood 128, no. 22 (2016): 4916. http://dx.doi.org/10.1182/blood.v128.22.4916.4916.

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Abstract Introduction: Severe congenital nötropenia (SCN) is a very rare disease. Genetic mutation in neutrophil elastase gene (ELANE) is the most frequent mutation in European and North American registries. However, differences could be expected in the countries where consanguineous marriages are common. It is important to find out whether the approach for genetic typing shall be the same in western Europe, eastern Europe and middle East. We aimed to establish a national neutropenia registry in Turkey, a country with an extraordinary mixed population of Caucasian and Asian decent and the prop
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Arunachalam, Arun Kumar, Hemamalini Suresh, Eunice Sindhuvi Edison, et al. "Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing." Journal of Clinical Pathology 73, no. 6 (2019): 322–27. http://dx.doi.org/10.1136/jclinpath-2019-206306.

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AimsCongenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a deficiency of mature neutrophils. They are usually caused by heterozygous ELANE mutations although mutations in other genes like HAX-1, G6PC3 and GFI1 have also been reported. Identifying the causative mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia like autoimmune cytopenia and evolving aplasia. We aimed to identify the molecular defects in CN patients who had no mutations in ELANE gene, by next generation seq
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Makaryan, Vahagn, Isabella N. Archibald, Merideth L. Kelley, Breanna Fletcher, and David C. Dale. "CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?" Blood 134, Supplement_1 (2019): 435. http://dx.doi.org/10.1182/blood-2019-124988.

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Background : Mutations in ELANE are the most common cause of both cyclic and severe congenital neutropenia. ELANE encodes neutrophil elastase (NE), a tissue specific serine protease expressed primarily in neutrophils. Expression of the mutant protein impairs survival and maturation of myeloid precursors in bone marrow. More than 130 different ELANE mutations have been found in patients with cyclic and congenital neutropenia, and genotype-phenotype studies suggest that specific mutations cause more severe disease. (Curr Op Hematol. 2015;22:3-11) Mutant NE is also implicated as the primary cause
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Garg, Bhavuk, Hrishikesh M. Mehta, Ralph Kamel, Marshall S. Horwitz, and Seth J. Corey. "Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response." Blood 134, Supplement_1 (2019): 103. http://dx.doi.org/10.1182/blood-2019-127409.

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Background. Severe congenital neutropenia (SCN) is characterized by a critical reduction in absolute neutrophil count (ANC < 500/μl), which renders the affected individual vulnerable to recurrent, life-threatening infections. A majority of SCN cases arise due to germline mutations in the neutrophil elastase gene (ELANE). Treatment with high dose granulocyte colony stimulating factor (GCSF) increases the number of neutrophils and eliminates the risk of infection. SCN patients are at a significantly high risk of developing myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML)
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30

Nayak, Ramesh C., Lisa Trump, Sana Emberesh, et al. "SERF1 Is Required for G-CSF Resistance of Start-Codon Mutant ELANE Granulocytic Precursors." Blood 138, Supplement 1 (2021): 433. http://dx.doi.org/10.1182/blood-2021-150899.

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Abstract Severe congenital neutropenia (SCN) is frequently associated with mutations in the ELANE gene encoding neutrophil elastase (NE), an azurophilic granule protein which represents a major fraction of all protein synthesized by neutrophilic promyelocytes and myelocytes. The reduction of mutant ELANE translation inversely correlates with neutrophil differentiation. Chronic administration of granulocyte colony-stimulating-factor (G-CSF) has been successfully used to treat some of these patients, especially those ones with mutations in C-terminus translating exons-4 and -5. Patients with pro
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Chugh, Gobind S., Vahagn Makaryan, Merideth Kelley, and David C. Dale. "Deciphering Genotype-Phenotype Correlations and the Mechanism of the Action of Neutrophil Elastase Inhibitors during ELANE Associated Neutropenia Utilizing Molecular Modeling Software." Blood 144, Supplement 1 (2024): 3905. https://doi.org/10.1182/blood-2024-203957.

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Background: Mutations in ELANE cause cyclic and severe congenital neutropenia. ELANE encodes neutrophil elastase (NE), a serine protease expressed in neutrophils. Mutations in ELANE impair neutrophil production and lead to serious infections and the risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The clinical phenotype, response to G-CSF and severity of disease are heterogeneous. A genotype-phenotype analysis demonstrated that some variants carry a particularly high risk of these events (PMID: 25427142). It is not known whether these high-risk mutations cause a more se
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Makaryan, Vahagn, Cornelia Zeidler, Audrey Anna Bolyard, et al. "Clinical Outcomes for Patients with Severe Chronic Neutropenia Due to Mutations in the Gene for Neutrophil Elastase, ELANE." Blood 120, no. 21 (2012): 3275. http://dx.doi.org/10.1182/blood.v120.21.3275.3275.

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Abstract Abstract 3275 Background: Mutations in the gene for neutrophil elastase, ELANE, are the most common cause of both cyclic (CyN) and congenital neutropenia (CN). Hypothesis: The risk of transformation to AML and effectiveness of G-CSF therapy for CyN and CN are consequences of the specific mutations and types of mutations in ELANE. Methods: We analyzed the treatment responses to G-CSF and occurrence of MDS/AML in 307 patients (CyN 118 and CN 189) with ELANE mutations observed prospectively for 0.4 to 24.9 years through the Severe Chronic Neutropenia International Registry (SCNIR). Most,
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33

Sabo, Peter, Vahagn Makaryan, Tanoya Poulsen, et al. "CRISPR Mediated ELANE Single-Allele Knock-out Restores Proliferation and Myeloid Differentiation of Neutropenia Patient Derived BM HSCs." Blood 136, Supplement 1 (2020): 23. http://dx.doi.org/10.1182/blood-2020-137215.

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Background: Mutations in ELANE are a cause of cyclic and severe congenital neutropenia (SCN), predominantly autosomal dominant disorders. ELANE encodes neutrophil elastase (NE), a tissue specific serine protease. Neutropenia occurs because mutant NE impairs survival and maturation of myeloid cells. More than 130 disease causing mutations in ELANE have been identified and cell permeable inhibitors of NE can correct the defect in cell survival and maturation in cellular models. (Makaryan et al. J Leukoc Biol. 2017;102:1143). CRISPR/Cas9 knock-out (KO) of ELANE in patients' hematopoietic stem cel
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34

Park, Chang-Hun, Silvia Park, Yae-Jean Kim, Sun-Hee Kim, and Hee-Jin Kim. "Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE." Journal of Pediatric Hematology/Oncology 42, no. 4 (2020): e231-e234. http://dx.doi.org/10.1097/mph.0000000000001353.

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35

Shigemura, Tomonari, Norimoto Kobayashi, Kazunaga Agematsu, Osamu Ohara, and Yozo Nakazawa. "Mosaicism of an ELANE Mutation in an Asymptomatic Mother." Journal of Clinical Immunology 39, no. 1 (2019): 106–11. http://dx.doi.org/10.1007/s10875-018-0580-1.

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36

Suriapperuma, Tharindi, Nura Hewage, Charith Udagedara, et al. "Severe congenital neutropaenia with ELANE mutation: a case report." Sri Lanka Journal of Medicine 29, no. 2 (2020): 80. http://dx.doi.org/10.4038/sljm.v29i2.187.

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37

Dale, David C., Vahagn Makaryan, Audrey Anna Bolyard, et al. "ELANE Mutations in Cyclic and Congenital Neutropenia: Genotype-Phenotype Relationships,." Blood 118, no. 21 (2011): 3398. http://dx.doi.org/10.1182/blood.v118.21.3398.3398.

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Abstract Abstract 3398 Mutations in ELANE are the most common cause of cyclic and congenital neutropenia. We have detected 65 distinctive and presumably causal mutations in 212 patients with cyclic (91) and congenital neutropenia (121), including 28 families with a total of 101 affected members, followed longitudinally through the Severe Chronic Neutropenia International Registry and Repository. The diagnosis of cyclic neutropenia was associated with 13 different mutations. Congenital neutropenia occurred with 61 different mutations and 9 mutations were found in both cyclic and congenital neut
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38

Walter, Roland B., Chelsea J. Gudgeon, Rhonda E. Ries, et al. "High Expression of Neutrophil Elastase Predicts Improved Survival In Pediatric Acute Myeloid Leukemia: A Report From the Children's Oncology Group." Blood 116, no. 21 (2010): 2762. http://dx.doi.org/10.1182/blood.v116.21.2762.2762.

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Abstract Abstract 2762 Background: Recent studies indicated that high expression of neutrophil elastase, a primary granule serine protease encoded by ELANE (ELA2), predicts longer survival of patients with chronic-phase chronic myeloid leukemia (CML) and improved outcome following allogeneic hematopoietic stem cell transplantation for advanced-phase CML. In contrast, the prognostic role of neutrophil elastase in acute myeloid leukemia (AML) is unknown. Therefore, we evaluated its expression in participants in a recent Children's Oncology Group (COG) AML pilot protocol. Methods: COG-AAML03P1 en
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39

Zeidler, Cornelia, Natali Gerschmann, Sabine Mellor-Heineke, Fabian Frömling, Julia Skokowa, and Karl Welte. "Response to High Dose G-CSF Treatment (20µg/kg/d or Higher) of Patients with Congenital Neutropenia: An Analysis By the Scnir in Europe." Blood 134, Supplement_1 (2019): 1225. http://dx.doi.org/10.1182/blood-2019-129844.

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Background: Congenital neutropenia (CN) is a group of rare inborn genetic disorders of hematopoiesis including a variety of different gene mutations and different patterns of inheritance. Independent of the underlying genetic subtypes, CN patients benefit from G-CSF maintenance treatment, which improved the life expectancy and quality of life significantly. The majority of CN patients documented by the SCNIR Europe respond well to G-CSF treatment and achieve and maintain neutrophil response with an anticipated ANC of greater 1000/µL with a median G-CSF dose of 4.77 µg/kg/day. However, the G-CS
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40

Ritter, Malte Ulrich, Masoud Nasri, Benjamin Dannenmann, et al. "A Pipeline for Comparison and Selection of Clinically Applicable Gene Therapy Approaches for ELANE-Associated Severe Congenital Neutropenia." Blood 142, Supplement 1 (2023): 934. http://dx.doi.org/10.1182/blood-2023-188707.

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Several gene editing strategies for autosomal dominant ELANE-associated severe congenital neutropenia (CN) have been proposed. All strategies efficiently correct CN with different degrees of the investigated comprehensiveness of toxicity and off-target activity. The next step now is to select the best approach for clinical translation. The first-line awareness should consider not only the universal applicability of gene editing but, most importantly, its safety. Since CN patients have a high cumulative incidence of leukemogenic transformation and pre-leukemia cells in the patient's bone marrow
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41

Uhlving, Hilde Hylland, Dorthe Grosen, Mathias Rathe, Mette Klarskov, Henrik Hasle, and Tania Nicole Masmas. "JMML WITH NRAS MUTATION IN ELANE ASSOCIATED SEVERE CONGENITAL NEUTROPENIA." EJC Paediatric Oncology 2 (December 2023): 100102. http://dx.doi.org/10.1016/j.ejcped.2023.100102.

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42

Dale, David C., Vahagn Makaryan, Merideth L. Kelley, et al. "Termination and Frameshift Mutations in ELANE Are Associated with Adverse Outcomes in Patients with Severe Chronic Neutropenia." Blood 128, no. 22 (2016): 1326. http://dx.doi.org/10.1182/blood.v128.22.1326.1326.

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Abstract Background: Mutations in ELANE are the most common cause for both cyclic and severe congenital neutropenia. We previously reported that some mutations, e.g., G214R and C151Y, are associated with more severe outcomes. (Makaryan, Zeidler, et al; Curr Op Hematol. 2015;22:3-11) We also found that termination and frameshift mutations are also associated with a high risk of MDS/AML, death from infection or need for transplantation. To aid in clinical care of SCN patients, we compared the clinical characteristics of patients with termination and frameshift who have or have not developed MDS/
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43

Saito, Satoshi, Shiho Nishimura, Miyuki Tsumura, et al. "A Comparison of Myelopoiesis from Induced Pluripotent Stem Cells with a Mutation in ELANE between Cyclic Neutropenia and Severe Congenital Neutropenia." Blood 126, no. 23 (2015): 2193. http://dx.doi.org/10.1182/blood.v126.23.2193.2193.

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Abstract The ELANE is known as the responsible gene for both cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). However, relations between mutations in the ELANE gene and abnormal myelopoiesis in the different phenotype of these diseases still remain unclear. It has been reported that induced pluripotent stem cell (iPSC) from an individual patient with SCN (SCN-iPSC) demonstrated maturation arrest of myeloid progenitor cells and poor response to granulocyte-colony stimulating factor as similarly observed in patient's bone marrow cells. Thus, the study on myelopoiesis using disea
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44

Dobbins, Nicholas J., Audrey Anna Bolyard, Robert T. Chang, et al. "Application of Spectral Density/Periodogram Analysis to Serial Neutrophil Counts to Diagnose Cyclic Neutropenia." Blood 126, no. 23 (2015): 4608. http://dx.doi.org/10.1182/blood.v126.23.4608.4608.

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Abstract Background: Cyclic neutropenia is characterized by oscillatory fluctuations in blood neutrophil counts, usually with nadirs <0.2 x 109/L at approximately 3 week intervals. Visual inspection of graphs of serial counts is usually the basis for diagnosis. Detection of mutations in ELANE is helpful but not diagnostic because of the overlap of the specific mutation patterns with those associated with severe congenital neutropenia. Making the correct diagnosis of cyclic neutropenia is important because these patients are not thought to be at risk of developing myelodysplasia or acute mye
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45

Zeidler, Cornelia, Anna Nickel, Ulrike A. H. Grote, Sabine Mellor-Heineke, and Karl Welte. "Reduction of Granulocyte-Colony Stimulating Factor Requirement in the Course of Long-Term Treatment for More Than 5 Years in Congenital Neutropenia Patients Harbouring ELANE Mutations." Blood 124, no. 21 (2014): 1399. http://dx.doi.org/10.1182/blood.v124.21.1399.1399.

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Abstract Congenital neutropenias include a heterogeneous group of diseases characterized by a decrease in circulating neutrophils and different underlying germ-line gene mutations. Since 1988 recombinant human G-CSF is available for the treatment of severe chronic neutropenia patients. In phase I/II/III studies in patients with severe congenital and cyclic neutropenia, treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) resulted in a rise in the absolute neutrophil counts (ANC) and a reduction in infections. The Severe Chronic Neutropenia International Registr
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46

Dale, David C., Audrey Anna Bolyard, Tracy M. Marrero, et al. "The Natural History of Cyclic Neutropenia: Long-Term Prospective Observations and Current Perspectives." Blood 120, no. 21 (2012): 2141. http://dx.doi.org/10.1182/blood.v120.21.2141.2141.

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Abstract Abstract 2141 Cyclic neutropenia (CyN) is an autosomal dominant and sporadically occurring hematological disease first described in 1910. Cyclic neutropenia is usually diagnosed in children before age 2 years based of regularly occurring fever, mouth ulcers, and recurrent skin or respiratory infections. In affected families, recognition is generally earlier than for the sporadic cases. Serial neutrophil counts usually show periods of very severe neutropenia (ANC< 0.2 × 109/L) at three week intervals and an intervening peak ANC less than 2.0 × 109/L. A reciprocal monocytosis often o
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47

Seal, Sudeshna, Michelle Krutein, Donovan Anderson, and Marshall Horwitz. "Neutrophil Elastase Catalytic Activity Regulates Granulopoiesis." Blood 142, Supplement 1 (2023): 1168. http://dx.doi.org/10.1182/blood-2023-180280.

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Heterozygous, autosomal dominantly inherited mutations in the gene, ELANE, encoding the neutrophil granule serine protease, neutrophil elastase, are the cause of cyclic neutropenia and the most common cause of severe congenital neutropenia. Many mutations throughout the protein occur in patients with congenital neutropenia, but they largely spare residues essential for enzymatic catalysis. Decades ago, neutrophil elastase was proposed to function as a chalone, in which its proteolytic activity feeds back to negatively regulate neutrophil production at steady state levels. To further determine
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48

Klimiankou, Maksim, Siarhei Kandabarau, Marlene Reuter, et al. "Identification of New Leukemia Associated Gene Mutations by Whole Genome Sequencing of DNA From Two Siblings with Congenital Neutropenia and Secondary AML." Blood 120, no. 21 (2012): 12. http://dx.doi.org/10.1182/blood.v120.21.12.12.

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Abstract Abstract 12 To identify the pattern of genetic aberrations, which may promote leukemia development in patients with severe congenital neutropenia (CN), we have performed a whole genome sequencing (WGS) of DNA samples from myeloid leukemic cells of two affected siblings suffering from CN. Both children harbored ELANE gene mutations. The father of the children demonstrates somatic mosaicism for the ELANE mutation and has no severe neutropenia. For WGS we used Complete Genomics technology (Complete Genomics. Inc, Mountain View, CA.). More than 90 % of genomes were sequenced at high quali
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49

Skokowa, Julia, Doris Steinemann, Vahagn Makaryan, et al. "RUNX1 Mutations Are the Most Frequent Leukemia Associated Mutations in Congenital Neutropenia Patients." Blood 120, no. 21 (2012): 7. http://dx.doi.org/10.1182/blood.v120.21.7.7.

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Abstract Abstract 7 Congenital neutropenia is a rare inborn heritable disease with a 20% risk to develop acute myeloid leukemia (AML). One of the most frequently mutated genes in de novo as well as in secondary AML is RUNX1. The aim of our study was to investigate whether patients with congenital neutropenia who developed secondary AML (CN/AML) acquire mutations within the RUNX1 gene prior to the development of AML and whether RUNX1 mutations might be involved in leukemogenesis. Mutation analysis was performed using a sensitive next-generation amplicon deep-sequencing assay (454 Life Sciences,
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50

Deordieva, E. A., T. V. Varlamova, E. V. Raikina, and A. Yu Shcherbina. "Genetic predictors of an unfavorable course of severe congenital neutropenia in patients with ELANE gene mutation." Voprosy gematologii/onkologii i immunopatologii v pediatrii 15, no. 1 (2016): 41–45. http://dx.doi.org/10.20953/1726-1708-2016-1-41-45.

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