GATA2 deficiency of a novel missense variant with multiorgan inflammation

被引:0
|
作者
Baba, Hiroyuki [1 ]
Kimura, Naoki [1 ]
Kanegane, Hirokazu [2 ]
Miya, Fuyuki [3 ]
Kosaki, Kenjiro [3 ]
Morio, Tomohiro [4 ]
Koike, Ryuji [1 ]
机构
[1] Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Rheumatol, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan
[2] Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan
[3] Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan
[4] Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Tokyo, Japan
关键词
D O I
10.1093/rheumatology/keae062
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
下载
收藏
页码:e226 / e228
页数:3
相关论文
共 50 条
  • [41] Linking GATA2 Deficiency to Dysregulated Innate Immune Signaling
    Tran, Vu L.
    Johnson, Kirby D.
    Katsumura, Koichi R.
    Bresnick, Emery H.
    BLOOD, 2021, 138
  • [42] GATA2 Deficiency Causes Severe, Persistent HPV Infections
    Dancy, Ehren K.
    Stratton, Pamela
    Merideth, Melissa A.
    Holland, Steven M.
    Marciano, Beatriz E.
    Zerbe, Christa S.
    OBSTETRICS AND GYNECOLOGY, 2016, 127 : 48S - 48S
  • [43] Adaptive Immunity in GATA2 Deficiency with a Focus on B Cells
    Wehr, C.
    Janda, A.
    Wlodarski, M.
    Mejstrikova, E.
    Draeger, R.
    Niemeyer, C.
    Warnatz, K.
    Rizzi, M.
    Salzer, U.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S420 - S420
  • [44] Severe Pulmonary Alveolar Proteinosis in a Patient with GATA2 Deficiency
    Beder, T. N.
    Correa de Almeida, G.
    Del Carlo Bernardi, F.
    Samano, M. N.
    Minamoto, H.
    Arimura, F. E.
    Carvalho, C. R. R.
    de Moraes Vasconcelos, D.
    Kairalla, R. A.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2019, 199
  • [45] Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Deficiency
    Hickstein, Dennis D.
    Shah, Nirali N.
    Freeman, Alexandra
    Zerbe, Christa
    Holland, Steven M.
    BLOOD, 2016, 128 (22)
  • [46] Missing in Plain Sight: Chromosomal Microdeletion and GATA2 Deficiency
    Freeman, Catherine
    Bauer, Cindy
    Miller, Holly
    Wright, Benjamin
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S70 - S70
  • [47] Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Deficiency
    Hickstein, Dennis D.
    Shah, Nirali N.
    Freeman, Alexandra F.
    Zerbe, Christa
    Holland, Steven M.
    Parta, Mark
    BLOOD, 2015, 126 (23)
  • [48] Blood and Bone Marrow Abnormalities Frequent and Unexpected in GATA2 Mutation Positive "Asymptomatic" Relatives of Patients with GATA2 Deficiency
    Obiorah, Ifeyinwa
    Wang, Weixin
    Hsu, Amy
    Daub, Janine
    Davis, Joie
    Palmer, Cindy
    Hickstein, Dennis
    Holland, Steven
    Calvo, Katherine
    MODERN PATHOLOGY, 2021, 34 (SUPPL 2) : 881 - 881
  • [49] CLINICAL FEATURES AND IMMUNOLOGICAL ABNORMALITIES OF GATA2 DEFICIENCY IN JAPAN
    Honma, K.
    Imai, K.
    Kamae, C.
    Ishida, H.
    Ito, Y.
    Kojima, S.
    Yokosuka, T.
    Kanegane, H.
    Morio, T.
    Sasahara, Y.
    Fujiwara, T.
    Harigae, H.
    Hashii, Y.
    Ohara, O.
    Nonoyama, S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 84 - 85
  • [50] Somatic genetic rescue in hematopoietic cells in GATA2 deficiency
    Catto, Luiz Fernando B.
    Borges, Gustavo
    Pinto, Andre L.
    Cle, Diego V.
    Chahud, Fernando
    Santana, Barbara A.
    Donaires, Flavia S.
    Calado, Rodrigo T.
    BLOOD, 2020, 136 (08) : 1002 - 1005