Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient-Reference-Cited by-同舟云学术

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient

Published:2020-09-28 Issue:1 Volume:41 Page:217-220
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Alsohime Fahad^ORCID,Almaghamsi Talal,Basha Talal A.,Alardati Hosam,Alghamdi Malak,Hawsawi Yousef Mohammed

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-020-00870-y.pdf

Reference19 articles.

1. Campo E, Harris NL. WHO classification of tumours of haematopoietic and lymphoid tissues. Revised 4th ed. Lyon: International Agency for Research on Cancer; 2017.

2. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957–9. https://doi.org/10.1126/science.286.5446.1957.

3. Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124–31.

4. Seguin A, Galicier L, Boutboul D, Lemiale V, Azoulay E. Pulmonary involvement in patients with hemophagocytic lymphohistiocytosis. Chest. 2016;149:1294–301. https://doi.org/10.1016/j.chest.2015.11.004.

5. Kim R, Meyer KC. Therapies for interstitial lung disease: past, present and future. Ther Adv Respir Dis. 2008;2:319–38. https://doi.org/10.1177/1753465808096948.

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives;Biomedicines;2023-10-12

2. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing;Medicina;2022-11-16

3. BARD1 mystery: tumor suppressors are cancer susceptibility genes;BMC Cancer;2022-06-01

4. Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross‐sectional analysis of the Saudi human genome program;Scientific Reports;2022-01-26

5. Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia;PLOS ONE;2021-11-15