Novel ZNFX1 Variant Mutation In Hemophagocytic Lymphohistiocytosis Patient—A Case Report

Authors

  • Mariam Almasri Faculty of Medicine, Jordan University of Science & Technology
  • Abdullah Alhusan Faculty of Medicine, Jordan University of Science & Technology
  • Hassan Abushukair Faculty of Medicine, Jordan University of Science & Technology
  • Hajar Ayasrah Department of Pediatrics, Jordan University of Science & Technology
  • Faris Abu Za'nouneh Faculty of Medicine, Jordan University of Science & Technology
  • Suleimman Al-Sweedan Department of Pediatrics, Jordan University of Science & Technology

DOI:

https://doi.org/10.58877/japaj.v1i3.46

Keywords:

Case report, rare cases

Abstract

 

 

 

Author Biographies

Mariam Almasri, Faculty of Medicine, Jordan University of Science & Technology

 

 

Abdullah Alhusan, Faculty of Medicine, Jordan University of Science & Technology

 

 

Hassan Abushukair, Faculty of Medicine, Jordan University of Science & Technology

 

 

Hajar Ayasrah, Department of Pediatrics, Jordan University of Science & Technology

 

 

Faris Abu Za'nouneh, Faculty of Medicine, Jordan University of Science & Technology

 

 

Suleimman Al-Sweedan, Department of Pediatrics, Jordan University of Science & Technology

 

 

References

B. P. Kaur and E. Secord, ‘Innate Immunity’, Pediatric Clinics, vol. 66, no. 5, pp. 905–911, Oct. 2019, doi: 10.1016/j.pcl.2019.06.011. DOI: https://doi.org/10.1016/j.pcl.2019.06.011

W. M. Schneider, M. D. Chevillotte, and C. M. Rice, ‘Interferon-stimulated genes: a complex web of host defenses.’, Annual review of immunology, vol. 32, pp. 513–545, 2014, doi: 10.1146/annurev-immunol-032713-120231. DOI: https://doi.org/10.1146/annurev-immunol-032713-120231

S. Vavassori et al., ‘Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.’, The Journal of allergy and clinical immunology, vol. 148, no. 2, pp. 381–393, Aug. 2021, doi: 10.1016/j.jaci.2021.03.045. DOI: https://doi.org/10.1016/j.jaci.2021.03.045

G. Griffin, S. Shenoi, and G. C. Hughes, ‘Hemophagocytic lymphohistiocytosis: An update on pathogenesis, diagnosis, and therapy.’, Best practice & research. Clinical rheumatology, vol. 34, no. 4, p. 101515, Aug. 2020, doi: 10.1016/j.berh.2020.101515. DOI: https://doi.org/10.1016/j.berh.2020.101515

M. B. Jordan et al., ‘Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).’, Pediatric blood & cancer, vol. 66, no. 11, p. e27929, Nov. 2019, doi: 10.1002/pbc.27929. DOI: https://doi.org/10.1002/pbc.27929

J. I. Henter et al., ‘HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.’, Pediatr Blood Cancer, vol. 48, no. 2, pp. 124–131, Feb. 2007, doi: 10.1002/PBC.21039. DOI: https://doi.org/10.1002/pbc.21039

S. W. Canna and R. A. Marsh, ‘Pediatric hemophagocytic lymphohistiocytosis.’, Blood, vol. 135, no. 16, pp. 1332–1343, Apr. 2020, doi: 10.1182/blood.2019000936. DOI: https://doi.org/10.1182/blood.2019000936

Y. Wang et al., ‘Mitochondria-localised ZNFX1 functions as a dsRNA sensor to initiate antiviral responses through MAVS’, Nature Cell Biology, vol. 21, no. 11, pp. 1346–1356, 2019, doi: 10.1038/s41556-019-0416-0. DOI: https://doi.org/10.1038/s41556-019-0416-0

T. Le Voyer et al., ‘Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.’, Proceedings of the National Academy of Sciences of the United States of America, vol. 118, no. 15, Apr. 2021, doi: 10.1073/pnas.2102804118. DOI: https://doi.org/10.1073/pnas.2102804118

S. Alawbathani et al., ‘Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities’, Clinical Genetics, vol. n/a, no. n/a, Oct. 2021, doi: https://doi.org/10.1111/cge.14081. DOI: https://doi.org/10.1111/cge.14081

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Published

2023-10-12

How to Cite

Almasri, M., Alhusan, A., Abushukair, H., Ayasrah, H., Abu Za’nouneh, F., & Al-Sweedan, S. (2023). Novel ZNFX1 Variant Mutation In Hemophagocytic Lymphohistiocytosis Patient—A Case Report. JAP Academy Journal, 1(3). https://doi.org/10.58877/japaj.v1i3.46

Issue

Section

Case Reports and Case Series

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