Severe Congenital Neutropenia with ELANE gene mutation, on G-CSF therapy; a case report

被引：0
|
作者：
Hanan, A. [1 ]
Altaf, S. [1 ]
Safdar, J. [1 ]
Khan, A. [1 ]
Sheikh-Fayyaz, S. [1 ]
机构：
[1] Long Isl Jewish Med Ctr, Pathol, New Hyde Pk, NY USA
来源：
AMERICAN JOURNAL OF CLINICAL PATHOLOGY | 2024年 / 162卷
关键词：
D O I：
10.1093/ajcp/aqae129.215
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
引用
收藏
页码：S97 / S97
页数：1
相关论文
共 50 条
  • [21] Severe congenital neutropenia with elastase, neutrophil expressed (ELANE) gene mutation in a Tanzanian child
    Shoo, Aika
    Swai, Peter
    Kindole, Christine
    Ngailo, Editruda
    Godfrey, Evance
    Massawe, Emmanuel
    Warren, Alan J.
    Luzzatto, Lucio
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 196 (05) : 1271 - 1274
  • [22] Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
    Ward, AC
    van Aesch, YM
    de Koning, JP
    Schelen, AM
    Smith, L
    Freedman, MH
    Touw, IP
    BLOOD, 1998, 92 (10) : 206A - 206A
  • [23] Absence of Neutropenia in Patient with an Exon 2 Nonsense Mutation in ELANE: Clinical Evidence to Support Gene Therapy Efforts for Severe Congenital Neutropenia
    Joos, Margret
    Shimamura, Akiko
    Chang, Timothy H.
    Newburger, Peter E.
    BLOOD, 2023, 142
  • [24] Elane Gene Mutations in Hungarian Patients with Severe Congenital Neutropenia
    Szekely, A.
    Toth, B.
    Soltesz, B.
    Csorba, G.
    Marodi, L.
    Erdos, M.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S267 - S268
  • [25] Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene
    Cho, Hye-Kyung
    Jeon, In Sang
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2014, 29 (03) : 452 - 455
  • [26] Osteoporosis in severe congenital neutropenia: Inherent to the disease or a sequela of G-CSF treatment?
    Simon, M
    Lengfelder, E
    Reiter, S
    Hehlmann, R
    AMERICAN JOURNAL OF HEMATOLOGY, 1996, 52 (02) : 127 - 127
  • [27] Severe Congenital Neutropenia With a Novel ELANE Mutation in 2 Mexican Patients
    Dorbeker-Azcona, R.
    Bellane-Chantelot, C.
    Olaya-Vargas, A.
    Perez-Garcia, M.
    Escamilla-Quiroz, C.
    Martinez-Bernal, A. B.
    Yamazaki-Nakashimada, M. A.
    Blancas-Galicia, L.
    JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2014, 24 (04) : 267 - 268
  • [28] A case of alloimmune neonatal neutropenia refractory to G-CSF therapy
    Eiber, GA
    Mair, DC
    Miller, JP
    Calhoun, DA
    TRANSFUSION, 2001, 41 (09) : 92S - 92S
  • [29] Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals
    Dror, Y
    Ward, AC
    Touw, IP
    Freedman, MH
    EXPERIMENTAL HEMATOLOGY, 2000, 28 (12) : 1381 - 1389
  • [30] Frequency of point mutations in the gene for the G-CSF receptor in patients with chronic neutropenia undergoing G-CSF therapy
    Tidow, N
    Pilz, C
    Kasper, B
    Welte, K
    STEM CELLS, 1997, 15 : 113 - 119
12345