Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease

被引:20
|
作者
Obiorah, Ifeyinwa Emmanuela
Beck, David B.
Wang, Weixin
Ombrello, Amanda
Ferrada, Marcela A.
Wu, Zhijie
Sikora, Keith A.
Trick, Megan A.
Dulau-Florea, Alina
Patel, Bhavisha A.
Groarke, Emma
Burgess, Shawn M.
Werner, Achim A.
Aksentijevich, Ivona A.
Young, Neal S.
Kastner, Daniel L.
Grayson, Peter C.
Calvo, Katherine R.
机构
关键词
D O I
10.1182/blood-2020-140480
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:3
相关论文
共 50 条
  • [41] Increased Ripk1-mediated bone marrow necroptosis leads to myelodysplasia and bone marrow failure in mice
    Wagner, Patrice N.
    Shi, Qiong
    Salisbury-Ruf, Christi T.
    Zou, Jing
    Savona, Michael R.
    Fedoriw, Yuri
    Zinkel, Sandra S.
    BLOOD, 2019, 133 (02) : 107 - 120
  • [42] Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome
    Louvrier, Camille
    Awad, Fawaz
    Amselem, Serge
    Lipsker, Dan
    Giurgea, Irina
    ALLERGY, 2022, 77 (11) : 3435 - 3436
  • [43] Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
    Matheus V. M. B. Wilke
    Eva Morava-Kozicz
    Matthew J. Koster
    Christopher T. Schmitz
    Shannon Kaye Foster
    Mrinal Patnaik
    Kenneth J. Warrington
    Eric W. Klee
    Filippo Pinto e Vairo
    BMC Rheumatology, 6
  • [44] Features of Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic mutation syndrome associated with the c.121A>C, p.(Met41Leu) UBA1 genetic variant: A systematic review
    Mumtaz, M.
    Khan, A. E.
    Qureshi, P. M.
    Poombal, F.
    Bauer, L. J.
    Noor, R.
    Malik, A.
    Khalid, M.
    Kamran, A.
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2024, 162
  • [45] Influence of Bone Marrow Blast Enumeration and Co-Occurring Myelodysplasia Related Gene Mutations in NPM1-Mutated Myeloid Malignancies
    Lachowiez, Curtis A.
    Asimomitis, Georgios
    Bernard, Elsa
    Tang, Ivory
    Tazi, Yanis
    Gilkes, Amanda
    Thomas, Ian
    Bullinger, Lars
    Doehner, Konstanze
    Dohner, Hartmut
    Huntly, Brian
    Russell, Nigel H.
    Loghavi, Sanam
    Papaemmanuil, Elli
    BLOOD, 2023, 142
  • [46] Somatic Mutations in a Single Residue of UBA1 Cause VEXAS, a Severe Adult-Onset Rheumatic Disease Presenting as Relapsing Polychondritis, Polyarteritis Nodosa, or Giant Cell Arteritis
    Beck, David
    Ferrada, Marcela
    Sikora, Keith
    Ombrello, Amanda
    Cardona, Daniela Ospina
    Balanda, Nicholas
    Pei, Wuhong
    Collins, Jason
    Colbert, Robert
    Kaplan, Mariana
    Gadina, Massimo
    Savic, Sinisa
    Lachmann, Helen
    Retterer, Kyle
    Burgess, Shawn
    Gahl, William
    Werner, Achim
    Aksentijevich, Ivona
    Young, Neal S.
    Calvo, Katherine R.
    Grayson, Peter C.
    Kastner, Daniel
    ARTHRITIS & RHEUMATOLOGY, 2020, 72
  • [47] Bone Marrow Manifestations of IgG4-Related Disease
    Sohani, A. R.
    Mahindra, A.
    Khosroshahi, A.
    Stone, J. H.
    Deshpande, V.
    Hasserjian, R. P.
    MODERN PATHOLOGY, 2012, 25 : 370A - 371A
  • [48] Bone Marrow Manifestations of IgG4-Related Disease
    Sohani, A. R.
    Mahindra, A.
    Khosroshahi, A.
    Stone, J. H.
    Deshpande, V.
    Hasserjian, R. P.
    LABORATORY INVESTIGATION, 2012, 92 : 370A - 371A
  • [49] Bone Marrow Failure in VEXAS Is Associated with the Degree of UBA1b Deficiency
    Turturice, Benjamin
    Fike, Alice
    Patel, Bhavisha
    Groarke, Emma
    Stonick, Karyssa
    Liu, Shanni
    Goodspeed, Wendy
    Quinn, Kaitlin
    Young, Neal
    Grayson, Peter
    ARTHRITIS & RHEUMATOLOGY, 2024, 76 : 5109 - 5110
  • [50] MYELODYSPLASIA WITH BONE-MARROW LYMPHOCYTOSIS AND FIBROSIS MIMICKING RECURRENT HODGKINS-DISEASE
    GOTTLIEB, CA
    MAEDA, K
    HAWLEY, RC
    ABRAHAM, JP
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1989, 91 (01) : 6 - 11