ELANE MUTATION C233TER PREDISPOSES PATIENTS WITH SEVERE CONGENITAL NEUTROPENIA TO ACUTE MYELOID LEUKEMIA

被引：0

作者：

Dale, D. ^{[1
]}

Bolyard, A. A. ^{[1
]}

Kelley, M. ^{[1
]}

Makaryan, V. ^{[1
]}

Boxer, L. ^{[2
]}

Bonilla, M. A. ^{[3
]}

Cavieres, M. ^{[4
]}

Tan, P. ^{[5
]}

Firkin, F. ^{[6
]}

机构：

[1] Univ Washington, Med, Seattle, WA 98195 USA

[2] Univ Michigan, Pediat Hematol Oncol, Ann Arbor, MI 48109 USA

[3] St Josephs Childrens Hosp, Pediat Hematol Oncol, Paterson, NJ USA

[4] Hosp Ninos Luis Calvo Mackenna, Hematol, Santiago, Chile

[5] Hollywood Med Ctr, Hematol, Nedlands, WA, Australia

[6] St Vincents Hosp, Med, Fitzroy, Vic, Australia

来源：

HAEMATOLOGICA | 2016年 / 101卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

PB1661

引用

页码：679 / 679

页数：1

共 50 条

[21] Mutations in the ELANE Gene are Associated with Development of Periodontitis in Patients with Severe Congenital Neutropenia [J].

Ying Ye ;

Göran Carlsson ;

Biniyam Wondimu ;

Annika Fahlén ;

Jenny Karlsson-Sjöberg ;

Mats Andersson ;

Lars Engstrand ;

Tülay Yucel-Lindberg ;

Thomas Modéer ;

Katrin Pütsep .

Journal of Clinical Immunology, 2011, 31 :936-945

[22] Severe Congenital Neutropenia with ELANE gene mutation, on G-CSF therapy; a case report [J].

Hanan, A. ;

Altaf, S. ;

Safdar, J. ;

Khan, A. ;

Sheikh-Fayyaz, S. .

AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2024, 162 :S97-S97

[23] Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review [J].

Jia, Yue ;

Yue, Changjun ;

Bradford, Kathryn ;

Qing, Xin ;

Panosyan, Eduard H. ;

Gotesman, Moran .

JOURNAL OF PEDIATRIC GENETICS, 2020, 09 (03) :203-206

[24] A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism [J].

Ying, Yingfen ;

Ye, Jinbin ;

Chen, Yamin ;

Chen, Qishu ;

Chen, Yilu ;

Lu, Xiaosheng ;

Xi, Haitao ;

Gu, Feng ;

Pan, Deng ;

Zhao, Junzhao .

CLINICA CHIMICA ACTA, 2022, 526 :14-20

[25] A Comparison of Myelopoiesis from Induced Pluripotent Stem Cells with a Mutation in ELANE between Cyclic Neutropenia and Severe Congenital Neutropenia [J].

Saito, Satoshi ;

Nishimura, Shiho ;

Tsumura, Miyuki ;

Mizoguchi, Yoko ;

Sakata, Sonoko ;

Furue, Aya ;

Miki, Mizuka ;

Kawaguchi, Hiroshi ;

Hiramoto, Takafumi ;

Ebihara, Yasuhiro ;

Tsuji, Kohichiro ;

Nakahata, Tatsutoshi ;

Kobayashi, Masao .

BLOOD, 2015, 126 (23)

[26] HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry [J].

Gioacchino Andrea Rotulo ;

Blandine Beaupain ;

Fanny Rialland ;

Catherine Paillard ;

Ouahiba Nachit ;

Claire Galambrun ;

Virginie Gandemer ;

Yves Bertrand ;

Benedicte Neven ;

Eric Dore ;

Despina Moshous ;

Bruno Filhon ;

Nathalie Aladjdi ;

Flore Sicre de Fontbrune ;

Regis Peffault de la Tour ;

Marie Ouachee ;

Christine Bellanne-Chantelot ;

Jean-Hugues Dalle ;

Jean Donadieu .

Bone Marrow Transplantation, 2020, 55 :1614-1622

[27] Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE: Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia [J].

Joos, Margret ;

Shimamura, Akiko ;

Chang, Timothy H. ;

Newburger, Peter E. .

BLOOD, 2023, 142

[28] New G-CSF-Dependent Signaling Pathway and Its Role In Patients with Severe Congenital Neutropenia and Acute Myeloid Leukemia [J].

Skokowa, Julia ;

Chirvon, Elena ;

Dan, Lan ;

Gupta, Kshama ;

Gigina, Ana ;

Reuter, Marlene ;

Mueller-Brechlin, Annette ;

Hussein, Kais ;

Carrizosa, Esteban ;

Burkhardt, Janis ;

Kreipe, Hans ;

Welte, Karl .

BLOOD, 2010, 116 (21) :173-173

[29] Acute myeloid leukemia in SRP54-mutated congenital neutropenia [J].

Sabulski, Anthony ;

Grier, David D. ;

Myers, Kasiani C. ;

Davies, Stella M. ;

Rubinstein, Jeremy D. .

EJHAEM, 2022, 3 (02) :521-525

[30] HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry [J].

Rotulo, Gioacchino Andrea ;

Beaupain, Blandine ;

Rialland, Fanny ;

Paillard, Catherine ;

Nachit, Ouahiba ;

Galambrun, Claire ;

Gandemer, Virginie ;

Bertrand, Yves ;

Neven, Benedicte ;

Dore, Eric ;

Moshous, Despina ;

Filhon, Bruno ;

Aladjdi, Nathalie ;

de Fontbrune, Flore Sicre ;

de la Tour, Regis Peffault ;

Ouachee, Marie ;

Bellanne-Chantelot, Christine ;

Dalle, Jean-Hugues ;

Donadieu, Jean .

BONE MARROW TRANSPLANTATION, 2020, 55 (08) :1614-1622

← 1 2 3 4 5 →