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Case Reports
. 2021 Apr;41(3):709-711.
doi: 10.1007/s10875-020-00964-7. Epub 2021 Jan 9.

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome

Kanako Mitsui-Sekinaka  1 , Satoshi Narumi  2 , Yujin Sekinaka  3 , Kenji Uematsu  3 , Yusuke Yoshida  3 , Naoko Amano  4 , Hirohito Shima  2 , Tomonobu Hasegawa  4 , Shigeaki Nonoyama  3
Affiliations
Case Reports

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome

Kanako Mitsui-Sekinaka et al. J Clin Immunol. 2021 Apr.
No abstract available

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References

    1. Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Hasegawa T, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48(7):792–7. - DOI
    1. Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, et al. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018;55(2):81–5. - DOI
    1. Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, et al. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One. 2018;13(11):e0206184. - DOI
    1. Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–5. - DOI
    1. Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, Naomi MG, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227–34. - DOI

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