Variable Clinical Presentation in Individuals with Truncating Variants in DDX41

被引:0
|
作者
Damskey, Ekaterina [1 ]
Yan, Jia [2 ]
Constantine, Gregory [1 ]
Keller, Michael [3 ]
Freeman, Alexandra [1 ]
Bergerson, Jenna [1 ]
Sneller, Michael [1 ]
Nath, Avindra [4 ]
Similuk, Morgan [2 ]
Walkiewicz, Magdalena [1 ]
机构
[1] NIAID, NIH, Bethesda, MD USA
[2] NIAID, Bethesda, MD USA
[3] Childrens Hosp, Translat Res Lab, Lenexa, KS USA
[4] NINDS, NIH, Bethesda, MD USA
关键词
DDX41 truncating variants; Phenotypic spectrum; Age-related penetrance;
D O I
10.1016/j.clim.2023.109581
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
236
引用
收藏
页码:139 / 139
页数:1
相关论文
共 50 条
  • [21] AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome
    Peng Li
    Thomas White
    Wei Xie
    Wei Cui
    Deniz Peker
    Gang Zeng
    Huan-You Wang
    Jennie Vagher
    Sara Brown
    Margaret Williams
    Tibor Kovacsovics
    Jay L. Patel
    Leukemia, 2022, 36 : 664 - 674
  • [22] DDX41: mutations of undetermined significance
    Cazabat, Romain
    HEMATOLOGIE, 2023, 29 (06): : 328 - 328
  • [23] DDX41 mutations in myeloid neoplasms
    Makishima, Hideki
    CANCER SCIENCE, 2025, 116 : 1282 - 1282
  • [24] Investigating the role of the somatic DDX41 variant in the context of DDX41 hereditary myeloid malignancy syndromes (HMMS)
    Marando, Ludovica
    Badar, Talha
    Kusne, Yael
    Morris, Audrey
    Lasho, Terra
    Mangaonkar, Abhishek
    Finke, Christy
    Crawley, Carles
    Foran, James M.
    Al-Kali, Aref
    King, Andrew
    Alkhateeb, Hassan
    Gangat, Naseema
    Wong, Chi
    He, Rong
    Viswanatha, David
    Basheer, Faisal
    Litzow, Mark
    Ferrer, Alejandro
    Vassiliou, George
    Patnaik, Mrinal
    CANCER RESEARCH, 2024, 84 (03)
  • [25] Clinicopathologic characteristics of myeloid neoplasms that harbor both a DDX41 germline and an acquired DDX41 genetic alteration
    Reichard, K.
    He, R.
    Viswanatha, D.
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2021, 156 : S91 - S91
  • [26] Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies
    Makishima, Hideki
    Saiki, Ryunosuke
    Nannya, Yasuhito
    Korotev, Sophia C.
    Gurnari, Carmelo
    Takeda, June
    Momozawa, Yukihide
    Best, Steve
    Krishnamurthy, Pramila
    Yoshizato, Tetsuichi
    Atsuta, Yoshiko
    Shiozawa, Yusuke
    Iijima-Yamashita, Yuka
    Yoshida, Kenichi
    Shiraishi, Yuichi
    Nagata, Yasunobu
    Kakiuchi, Nobuyuki
    Onizuka, Makoto
    Chiba, Kenichi
    Tanaka, Hiroko
    Kon, Ayana
    Ochi, Yotaro
    Nakagawa, Masahiro Marshall
    Okuda, Rurika
    Mori, Takuto
    Yoda, Akinori
    Itonaga, Hidehiro
    Miyazaki, Yasushi
    Sanada, Masashi
    Ishikawa, Takayuki
    Chiba, Shigeru
    Tsurumi, Hisashi
    Kasahara, Senji
    Muller-Tidow, Carsten
    Takaori-Kondo, Akifumi
    Ohyashiki, Kazuma
    Kiguchi, Toru
    Matsuda, Fumihiko
    Jansen, Joop H.
    Polprasert, Chantana
    Blombery, Piers
    Kamatani, Yoichiro
    Miyano, Satoru
    Malcovati, Luca
    Haferlach, Torsten
    Kubo, Michiaki
    Cazzola, Mario
    Kulasekararaj, Austin
    Godley, Lucy A.
    Maciejewski, Jaroslaw P.
    BLOOD, 2022, 140
  • [27] Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations
    Qu, Shiqiang
    Li, Bing
    Qin, Tiejun
    Xu, Zefeng
    Pan, Lijuan
    Hu, Naibo
    Huang, Gang
    Gale, Robert Peter
    Xiao, Zhijian
    BRITISH JOURNAL OF HAEMATOLOGY, 2021, 192 (06) : 1006 - 1010
  • [28] Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
    Sharma, Prashant
    McFadden, Jason R.
    Frost, F. Graeme
    Markello, Thomas C.
    Grange, Dorothy K.
    Introne, Wendy J.
    Gahl, William A.
    Malicdan, May Christine V.
    HUMAN GENETICS, 2024, 143 (12) : 1445 - 1457
  • [29] Myeloid neoplasms with germline DDX41 mutation
    Jesse J. C. Cheah
    Christopher N. Hahn
    Devendra K. Hiwase
    Hamish S. Scott
    Anna L. Brown
    International Journal of Hematology, 2017, 106 : 163 - 174
  • [30] DDX41: exploring the roles of a versatile helicase
    Winstone, Lacey
    Jung, Yohan
    Wu, Yuliang
    BIOCHEMICAL SOCIETY TRANSACTIONS, 2024, 52 (01) : 395 - 405