Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant-Reference-Cited by-同舟云学术

Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant

Published:2023-12-22 Issue:1 Volume:44 Page:
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Sakovich Inga S.,Haapaniemi Emma,Aleshkevich Svetlana N.,Pakhomava Iryna V.,Belobokova Victoria D.,Poliakova Ekaterina A.,Volodashchik Tatiana P.,Migas Alexandr A.,Kupchinskaya Aleksandra N.,Mikhaleuskaya Taisiya M.,Belevtsev Mikhail V.,Proleskovskaya Inna V.,Demidchik Valeria,Saarela Janna,Sharapova Svetlana O.^ORCID,

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-023-01609-1.pdf

Reference5 articles.

1. Fiore A, et al. Deubiquitinase mysm1 in the hematopoietic system and beyond: A current review. Int J Mol Sci. 2020;21(8):1–15. https://doi.org/10.3390/ijms21083007.

2. Alsultan A, Shamseldin HE, Osman ME, Aljabri M, Alkuraya FS. MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. Blood. 2013;122(23):3844–5. https://doi.org/10.1182/blood-2013-09-527127.

3. Le Guen T, et al. An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. J Allergy Clin Immunol. 2015;136(6):1619-1626.e5. https://doi.org/10.1016/j.jaci.2015.06.008.

4. Bahrami E, et al. Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. J Allergy Clin Immunol. 2017;140(4):1112–9. https://doi.org/10.1016/j.jaci.2016.10.053.

5. Barhoom D, Mohseni R, Behfar M, Hamidieh AA. Successful allogeneic stem cell transplantation with fludarabine-based reduced intensity conditioning in bone marrow failure syndrome 4. Pediatr Transplant. 2021;25(7):4–7. https://doi.org/10.1111/petr.14089.