Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin

Christopher T Peek^{1

2}, Manuel Silva-Carmona^{3

2}, Alison A Bertuch^{4

2}, Sarah K Nicholas^{5

6}, Tiphanie P Vogel^{7

8}

Affiliations

¹ Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
² Texas Children's Hospital, Houston, TX, USA.
³ Department of Pediatrics, Division of Pulmonology, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, TX, USA.
⁵ Department of Pediatrics, Division of Immunology, Allergy and Retrovirology, Baylor College of Medicine, Houston, TX, USA.
⁶ Texas Children's Hospital Center for Human Immunobiology, Houston, TX, USA.
⁷ Department of Pediatrics, Division of Rheumatology, Baylor College of Medicine, Houston, TX, USA. tpvogel@bcm.edu.
⁸ Texas Children's Hospital Center for Human Immunobiology, Houston, TX, USA. tpvogel@bcm.edu.

Case Reports

Christopher T Peek et al. J Clin Immunol. 2024.

. 2024 Sep 30;45(1):19.

doi: 10.1007/s10875-024-01808-4.

Christopher T Peek^{1

2}, Manuel Silva-Carmona^{3

2}, Alison A Bertuch^{4

2}, Sarah K Nicholas^{5

6}, Tiphanie P Vogel^{7

8}

¹ Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
² Texas Children's Hospital, Houston, TX, USA.
³ Department of Pediatrics, Division of Pulmonology, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, TX, USA.
⁵ Department of Pediatrics, Division of Immunology, Allergy and Retrovirology, Baylor College of Medicine, Houston, TX, USA.
⁶ Texas Children's Hospital Center for Human Immunobiology, Houston, TX, USA.
⁷ Department of Pediatrics, Division of Rheumatology, Baylor College of Medicine, Houston, TX, USA. tpvogel@bcm.edu.
⁸ Texas Children's Hospital Center for Human Immunobiology, Houston, TX, USA. tpvogel@bcm.edu.

No abstract available

Keywords: SAMD9; Autoinflammation; Immunodeficiency; MIRAGE.

References

1. Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48:792–7. - DOI - PubMed
1. Suntharalingham JP, Ishida M, Valle ID, Stalman SE, Solanky N, Wakeling E, et al. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. Front Endocrinol. 2022;13:953707. - DOI
1. Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, et al. Clinical and immunological analyses of ten patients with MIRAGE Syndrome. J Clin Immunol. 2021;41:709–11. - DOI - PubMed
1. Sarthy J, Zha J, Babushok D, Shenoy A, Fan J-M, Wertheim G, et al. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018;2:120–5. - DOI - PubMed - PMC
1. Buonocore F, Kühnen P, Suntharalingham JP, Valle ID, Digweed M, Stachelscheid H, et al. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Investig. 2017;127:1700–13. - DOI - PubMed - PMC