Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review

被引:6
作者
Johnson, Jennifer A. [1 ,2 ]
Yu, Steven S. [2 ]
Elist, Michael [1 ,2 ]
Arkfeld, Daniel [1 ,2 ]
Panush, Richard S. [1 ,2 ]
机构
[1] Univ So Calif, Keck Sch Med, Dept Med, Div Rheumatol, Los Angeles, CA 90033 USA
[2] LAC USC Med Ctr, Los Angeles, CA USA
关键词
GATA2; mutation; Monocytopenia; Mycobacterium avium complex; Panniculitis; Pseudovasculitis; Rheumatologic manifestations; Systematic review; Vasculitis; NK LYMPHOID DEFICIENCY; DENDRITIC CELL; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; MYELODYSPLASIA; MUTATION;
D O I
10.1007/s10067-015-2905-2
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.
引用
收藏
页码:1643 / 1645
页数:3
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共 10 条
  • [1] Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome
    Bigley, Venetia
    Collin, Matthew
    [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (08): : 1081 - 1083
  • [2] The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
    Bigley, Venetia
    Haniffa, Muzlifah
    Doulatov, Sergei
    Wang, Xiao-Nong
    Dickinson, Rachel
    McGovern, Naomi
    Jardine, Laura
    Pagan, Sarah
    Dimmick, Ian
    Chua, Ignatius
    Wallis, Jonathan
    Lordan, Jim
    Morgan, Cliff
    Kumararatne, Dinakantha S.
    Doffinger, Rainer
    van der Burg, Mirjam
    van Dongen, Jacques
    Cant, Andrew
    Dick, John E.
    Hambleton, Sophie
    Collin, Matthew
    [J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (02) : 227 - 234
  • [3] Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications
    Calvo, Katherine R.
    Vinh, Donald C.
    Maric, Irina
    Wang, Weixin
    Noel, Pierre
    Stetler-Stevenson, Maryalice
    Arthur, Diane C.
    Raffeld, Mark
    Dutra, Amalia
    Pak, Evgenia
    Myung, Kyungjae
    Hsu, Amy P.
    Hickstein, Dennis D.
    Pittaluga, Stefania
    Holland, Steven M.
    [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (08): : 1221 - 1225
  • [4] MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature
    Camargo, Jose F.
    Lobo, Stephen A.
    Hsu, Amy P.
    Zerbe, Christa S.
    Wormser, Gary P.
    Holland, Steven M.
    [J]. CLINICAL INFECTIOUS DISEASES, 2013, 57 (05) : 697 - 699
  • [5] Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency
    Cuellar-Rodriguez, Jennifer
    Gea-Banacloche, Juan
    Freeman, Alexandra F.
    Hsu, Amy P.
    Zerbe, Christa S.
    Calvo, Katherine R.
    Wilder, Jennifer
    Kurlander, Roger
    Olivier, Kenneth N.
    Holland, Steven M.
    Hickstein, Dennis D.
    [J]. BLOOD, 2011, 118 (13) : 3715 - 3720
  • [6] Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    Dickinson, Rachel Emma
    Griffin, Helen
    Bigley, Venetia
    Reynard, Louise N.
    Hussain, Rafiqul
    Haniffa, Muzlifah
    Lakey, Jeremy H.
    Rahman, Thahira
    Wang, Xiao-Nong
    McGovern, Naomi
    Pagan, Sarah
    Cookson, Sharon
    McDonald, David
    Chua, Ignatius
    Wallis, Jonathan
    Cant, Andrew
    Wright, Michael
    Keavney, Bernard
    Chinnery, Patrick F.
    Loughlin, John
    Hambleton, Sophie
    Santibanez-Koref, Mauro
    Collin, Matthew
    [J]. BLOOD, 2011, 118 (10) : 2656 - 2658
  • [7] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia
    Ishida, Hiroyuki
    Imai, Kosuke
    Honma, Kenichi
    Tamura, Shin-ichi
    Imamura, Toshihiko
    Ito, Masafumi
    Nonoyama, Shigeaki
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (08) : 1273 - 1276
  • [8] A woman with warts, leg swelling, and deafness
    Muszynski, Melissa A.
    Zerbe, Christa S.
    Holland, Steven M.
    Kong, Heidi H.
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2014, 71 (03) : 577 - 580
  • [9] GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
    Spinner, Michael A.
    Sanchez, Lauren A.
    Hsu, Amy P.
    Shaw, Pamela A.
    Zerbe, Christa S.
    Calvo, Katherine R.
    Arthur, Diane C.
    Gu, Wenjuan
    Gould, Christine M.
    Brewer, Carmen C.
    Cowen, Edward W.
    Freeman, Alexandra F.
    Olivier, Kenneth N.
    Uzel, Gulbu
    Zelazny, Adrian M.
    Daub, Janine R.
    Spalding, Christine D.
    Claypool, Reginald J.
    Giri, Neelam K.
    Alter, Blanche P.
    Mace, Emily M.
    Orange, Jordan S.
    Cuellar-Rodriguez, Jennifer
    Hickstein, Dennis D.
    Holland, Steven M.
    [J]. BLOOD, 2014, 123 (06) : 809 - 821
  • [10] Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
    Vinh, Donald C.
    Patel, Smita Y.
    Uzel, Gulbu
    Anderson, Victoria L.
    Freeman, Alexandra F.
    Olivier, Kenneth N.
    Spalding, Christine
    Hughes, Stephen
    Pittaluga, Stefania
    Raffeld, Mark
    Sorbara, Lynn R.
    Elloumi, Houda Z.
    Kuhns, Douglas B.
    Turner, Maria L.
    Cowen, Edward W.
    Fink, Danielle
    Long-Priel, Debra
    Hsu, Amy P.
    Ding, Li
    Paulson, Michelle L.
    Whitney, Adeline R.
    Sampaio, Elizabeth P.
    Frucht, David M.
    Deleo, Frank R.
    Holland, Steven M.
    [J]. BLOOD, 2010, 115 (08) : 1519 - 1529