MonoMAC syndrome in a patient with a GATA2 mutation: Case report

被引:0
|
作者
Farrill, O. P. M. [1 ]
Herrera, D. A. [1 ]
Vargas, F. R. [1 ]
Berron, L. [1 ]
Segura, N. H. [1 ]
机构
[1] Ctr Med Nacl Siglo XXI, Mexican Inst Social Secur Allergy & Clin Immunol, Hosp Especialidades, Mexico City, DF, Mexico
关键词
D O I
暂无
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
1524
引用
收藏
页码:189 / 189
页数:1
相关论文
共 50 条
  • [31] Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
    Kazenwadel, Jan
    Secker, Genevieve A.
    Liu, Yajuan J.
    Rosenfeld, Jill A.
    Wildin, Robert S.
    Cuellar-Rodriguez, Jennifer
    Hsu, Amy P.
    Dyack, Sarah
    Fernandez, Conrad V.
    Chong, Chan-Eng
    Babic, Milena
    Bardy, Peter G.
    Shimamura, Akiko
    Zhang, Michael Y.
    Walsh, Tom
    Holland, Steven M.
    Hickstein, Dennis D.
    Horwitz, Marshall S.
    Hahn, Christopher N.
    Scott, Hamish S.
    Harvey, Natasha L.
    BLOOD, 2012, 119 (05) : 1283 - 1291
  • [32] Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
    Blanco, Maria Laura
    Torrent, Montserrat
    Bussaglia, Elena
    Badell, Isabel
    Nomdedeu, Josep F.
    CLINICAL CASE REPORTS, 2020, 8 (12): : 3192 - 3196
  • [34] Recurrent Infections due to Mycobacteria, Viruses and Pyogenic Bacteria, Plus TLR Defect: First Brazilian Case of MonoMAC and New GATA2 Mutation?
    de Oliveira Junior, E. B.
    de Carvalho, M. B.
    Pedroza, L.
    Campos, R. A.
    Bustamante, J.
    Casanova, J. L.
    Condino Neto, A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S327 - S327
  • [35] New Approach to Decipher GATA2 Deficiency Syndrome: Focus on the Recurrent GATA2 R396Q Mutation
    Largeaud, Laetitia
    Jamrog, Laura
    Fregona, Vincent
    Hamelle, Camille
    Dufrechou, Stephanie
    Prade, Nais
    Hebrard, Sylvie
    Sellam, Esmaa
    Bayet, Manon
    Didier, Christine
    Gerby, Bastien
    Delabesse, Eric
    Pasquet, Marlene
    Broccardo, Cyril
    BLOOD, 2021, 138
  • [36] Hemophagocytic Lymphohistiocytosis Associated with NK Cell Dysfunction and Disseminated Herpesvirus Infection in GATA2 Deficiency/Monomac Syndrome
    Spinner, Michael A.
    Odio, Camila
    Calvo, Katherine R.
    Hsu, Amy P.
    Zerbe, Christa S.
    Cuellar-Rodriguez, Jennifer
    Ker, Jennifer P.
    Stoudenmire, Charles J.
    Fadare, Oluwole
    Ghosh, Arunima
    Mace, Emily M.
    Orange, Jordan S.
    Hickstein, Dennis D.
    Holland, Steven M.
    BLOOD, 2014, 124 (21)
  • [37] WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene
    Dorn, Joshua M.
    Patnaik, Mrinal S.
    Van Hee, Michelle
    Smith, Matthew J.
    Lagerstedt, Susan A.
    Newman, Catherine C.
    Boyce, Thomas G.
    Abraham, Roshini S.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2017, 5 (04): : 1149 - +
  • [38] A CASE OF GATA2 DEFICIENCY
    Lai, Jessica
    Wong, Melanie
    INTERNAL MEDICINE JOURNAL, 2018, 48 : 35 - 35
  • [39] The evolution of cellular deficiency in GATA2 mutation
    Dickinson, Rachel E.
    Milne, Paul
    Jardine, Laura
    Zandi, Sasan
    Swierczek, Sabina I.
    McGovern, Naomi
    Cookson, Sharon
    Ferozepurwalla, Zaveyna
    Langridge, Alexander
    Pagan, Sarah
    Gennery, Andrew
    Heiskanen-Kosma, Tarja
    Hamalainen, Sari
    Seppanen, Mikko
    Helbert, Matthew
    Tholouli, Eleni
    Gambineri, Eleonora
    Reykdal, Sigrun
    Gottfredsson, Magnus
    Thaventhiran, James E.
    Morris, Emma
    Hirschfield, Gideon
    Richter, Alex G.
    Jolles, Stephen
    Bacon, Chris M.
    Hambleton, Sophie
    Haniffa, Muzlifah
    Bryceson, Yenan
    Allen, Carl
    Prchal, Josef T.
    Dick, John E.
    Bigley, Venetia
    Collin, Matthew
    BLOOD, 2014, 123 (06) : 863 - 874
  • [40] Mutation in GATA2 linked to leukemia predisposition
    不详
    PERSONALIZED MEDICINE, 2011, 8 (06) : 604 - 604