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Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease

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References

  1. Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, et al. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. Nat Med. 2021;27(10):1806–17.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Li FP, Potter NU, Buchanan GR, Vawter G, Whang-Peng J, Rosen RB. A family with acute leukemia, hypoplastic anemia and cerebellar ataxia. Am J Med. 1978;65(6):933–40.

    Article  PubMed  CAS  Google Scholar 

  3. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.

    Article  PubMed  PubMed Central  ADS  CAS  Google Scholar 

  4. Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Med. 2021;13(1):31.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Nassar LR, Barber GP, Benet-Pagès A, Casper J, Clawson H, Diekhans M, et al. The UCSC Genome Browser database: 2023 update. Nucleic Acids Res. 2023;51(D1):D1188–95.

    Article  PubMed  CAS  Google Scholar 

  6. Madeira F, Pearce M, Tivey ARN, Basutkar P, Lee J, Edbali O, et al. Search and sequence analysis tools services from EMBL-EBI in 2022. Nucleic Acids Res. 2022;50(W1):W276–9.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Investig. 2020;130(4):1669–82.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J. SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. Leukemia. 2018;32(5):1106–15.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  9. Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, et al. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J Allerg Clin Immunol. 2019;143(1):359–68.

    Article  Google Scholar 

  10. Muhammad H, Haryana SM, Magetsari R, Kurniawan A, Baikuni B, Saraswati PA. Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review. Orthop Res Rev. 2023;15:19–25.

    PubMed  PubMed Central  Google Scholar 

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Acknowledgement

We would like to acknowledge Dr. Zinet Currimbhoy who started the Immunology department at B. J. Wadia Hospital for Children in early 2000s. Dr Manisha Madkaikar for the help with the immunological workup of this patient.

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Authors and Affiliations

Authors

Contributions

Vaishnavi V Iyengar collection and analysis of data, drafting of article and final approval of the version to be published.

Akshaya Choughule collection of data, final approval of version to be published

Vijaya Gowri, collection of data, final approval of version to be published

Prasad Taur collection of data, final approval of version to be published

Minnie Bodhanwala collection of data, final approval of version to be published

Mukesh M Desai concept and design, collection and interpretation of data, final approval of the version to be published.

Corresponding author

Correspondence to Mukesh M. Desai.

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Ethics Approval

Ethics approval was taken from our Bai Jerbai Wadia Hospital for Children ethics committee.

Helsinki declaration was followed.

Consent to Participate

A written informed consent was taken from the guardian of the child included in the study.

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The authors affirm that the guardian provided informed consent for publication of the images.

Conflict of Interest

The authors declare no competing interests.

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Iyengar, V.V., Chougule, A., Gowri, V. et al. Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease. J Clin Immunol 44, 43 (2024). https://doi.org/10.1007/s10875-023-01650-0

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  • DOI: https://doi.org/10.1007/s10875-023-01650-0

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