Mutations in the TNFRSF1A, CEBPE and ELANE genes in a Congenital Cyclic Neutropenia Patient: A New Syndrome?

被引：0
|
作者：
Skokowa, Julia [1 ]
Klimenkova, Olga [1 ]
Klimiankou, Maksim [1 ]
Kandabarau, Siarhei [1 ]
Reuter, Marlene [1 ]
Hagemann, Anna-Lena [1 ]
Welte, Karl [1 ]
机构：
[1] Hannover Med Sch, Hannover, Germany
来源：
BLOOD | 2012年 / 120卷 / 21期
关键词：
D O I：
10.1182/blood.V120.21.11.11
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
11
引用
收藏
页数：2
相关论文
共 50 条
  • [1] The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia
    Germeshausen, Manuela
    Deerberg, Sabine
    Peter, Yvonne
    Reimer, Christina
    Kratz, Christian P.
    Ballmaier, Matthias
    HUMAN MUTATION, 2013, 34 (06) : 905 - 914
  • [2] ELANE Mutations in Cyclic and Severe Congenital Neutropenia Genetics and Pathophysiology
    Horwitz, Marshall S.
    Corey, Seth J.
    Grimes, H. Leighton
    Tidwell, Timothy
    HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 2013, 27 (01) : 19 - +
  • [3] CONGENITAL AND CYCLIC NEUTROPENIA WITH ELANE MUTATIONS: GENOTYPE-PHAENOTYPE CORRELATION
    Zeidler, C.
    HAEMATOLOGICA, 2012, 97 : 45 - 45
  • [4] ELANE Mutations in Cyclic and Congenital Neutropenia: Genotype-Phenotype Relationships
    Dale, David C.
    Makaryan, Vahagn
    Bolyard, Audrey Anna
    Rodger, Elin R.
    Kelley, Merideth L.
    Marrero, Tracy M.
    Phan, Lan
    Aprikyan, Andrew A.
    Bonilla, Mary Ann
    Newburger, Peter E.
    Boxer, Laurence A.
    Link, Daniel
    BLOOD, 2011, 118 (21) : 1456 - 1456
  • [5] Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations
    Granel, B.
    Serratrice, J.
    Dode, C.
    Grateau, G.
    Disdier, P.
    Weiller, P. -J.
    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2007, 25 (04) : S93 - S95
  • [6] Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations
    Zeidler, Alexander
    Borbaran-Bravo, Natalia
    Dannenmann, Benjamin
    Ritter, Malte
    Nasri, Masoud
    Klimiankou, Maksim
    Kandabarau, Sergey
    Zahabi, Azadeh
    Koenig, Josef
    Zeidler, Cornelia
    Skokowa, Julia
    Welte, Karl
    HAEMATOLOGICA, 2024, 109 (05) : 1393 - 1402
  • [7] Cyclic Neutropenia and Severe Congenital Neutropenia in Patients With a Shared ELANE Mutation and Paternal Haplotype: Evidence for Phenotype Determination by Modifying Genes
    Newburger, Peter E.
    Pindyck, Talia N.
    Zhu, Zhiqing
    Bolyard, Audrey Anna
    Aprikyan, Andrew A. G.
    Dale, David C.
    Smith, Gary D.
    Boxer, Laurence A.
    PEDIATRIC BLOOD & CANCER, 2010, 55 (02) : 314 - 317
  • [8] MUTATIONS IN TNFRSF1A AND NLRP3 GENES IN PATIENTS WITH RECURRENT INFLAMMATORY ATTACKS IN RUSSIAN POPULATION
    Savostyanov, K.
    Alexeeva, E.
    Sleptsova, T.
    Pushkov, A.
    Valieva, S.
    Bzarova, T.
    Denisova, R.
    Mitenko, E.
    Nikitin, A.
    Isayeva, K.
    Chomahidze, A.
    Fetisova, A.
    Chistyakova, E.
    ANNALS OF THE RHEUMATIC DISEASES, 2014, 73 : 1094 - 1095
  • [9] Candidate Genes in Patients with Autoinflammatory Syndrome Resembling Tumor Necrosis Factor Receptor-associated Periodic Syndrome Without Mutations in the TNFRSF1A Gene
    Borghini, Silvia
    Fiore, Michele
    Di Duca, Marco
    Caroli, Francesco
    Finetti, Martina
    Santamaria, Giuseppe
    Ferlito, Francesca
    Bua, Federico
    Picco, Paolo
    Obici, Laura
    Martini, Alberto
    Gattorno, Marco
    Ceccherini, Isabella
    JOURNAL OF RHEUMATOLOGY, 2011, 38 (07) : 1378 - 1384
  • [10] A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist
    Kurochkina, Yu. D.
    Korolev, M. A.
    Letyagina, E. A.
    Fishman, V. S.
    Valeeva, E. S.
    Gridina, M. M.
    BYULLETEN SIBIRSKOY MEDITSINY, 2023, 22 (02): : 170 - 175
12345