173
Views
0
CrossRef citations to date
0
Altmetric
Letter to the Editor

A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant

ORCID Icon, ORCID Icon, , ORCID Icon, , ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 301-309 | Received 20 Mar 2023, Accepted 18 Nov 2023, Published online: 04 Dec 2023

References

  • Li P, Huang P, Yang Y, Hao M, Peng H, Li F. Updated understanding of autoimmune lymphoproliferative syndrome (ALPS). Clin Rev Allergy Immunol. 2016;50(1):55–63. doi:10.1007/s12016-015-8466-y.
  • Matson DR, Yang DT. Autoimmune lymphoproliferative syndrome an overview. Arch Pathol Lab Med. 2020;144(2):245–251. doi:10.5858/arpa.2018-0190-RS.
  • Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81(6):935–946. doi:10.1016/0092-8674(95)90013-6.
  • Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): Report from the 2009 NIH International Workshop. Blood. 2010;116(14):e35–e40. doi:10.1182/blood-2010-04-280347.
  • Bleesing JJ, Nagaraj CB, Zhang K. Autoimmune lymphoproliferative syndrome. GeneReviews®. 2017; Published Online August 24 Accessed October 23, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1108/
  • Lim MS, Straus SE, Dale JK, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol. 1998;153(5):1541–1550. doi:10.1016/S0002-9440(10)65742-2.
  • Niss O, Sholl A, Bleesing JJ, Hildeman DA. IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2015;135(3):762–770. doi:10.1016/j.jaci.2014.07.020.
  • Ikincioğullari A, Kendirli T, Doğu F, et al. Peripheral blood lymphocyte subsets in healthy Turkish children. Turk J Pediatr. 2004;46(2):125–130. http://www.ncbi.nlm.nih.gov/pubmed/15214740
  • Aksu G, Genel F, Koturoğlu G, Kurugöl Z, Kütükçüler N. Serum immunoglobulin(IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr. 2005;47:19–24.
  • Hughes H, Kahl L. The Harriet Lane Handbook: A Manual for Pediatric House Officers. 21st ed. Philadelphia, PA: Elsevier; 2018.
  • Schatorjé EJH, Gemen EFA, Driessen GJA, Leuvenink J, van Hout RWNM, de Vries E. Paediatric reference values for the peripheral T cell compartment. Scand J Immunol. 2012;75(4):436–444. doi:10.1111/J.1365-3083.2012.02671.X.
  • Eken A, Singh AK, Treuting PM, Oukka M. IL-23R + innate lymphoid cells induce colitis via interleukin-22-dependent mechanism. Mucosal Immunol. 2014;7(1):143–154. doi:10.1038/mi.2013.33.
  • Hafezi N, Zaki-Dizaji M, Nirouei M, et al. Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review. Pediatr Allergy Immunol. 2021;32(7):1519–1532. doi:10.1111/pai.13535.
  • Patiroglu T, Gungor H, Unal E. Autoimmune diseases detected in children with primary immunodeficiency diseases: results from a reference centre at middle anatolia. Acta Microbiol Immunol Hung. 2012;59(3):343–353. doi:10.1556/AMICR.59.2012.3.5.
  • Rieux-Laucat F, Magérus-Chatinet A, Neven B. The autoimmune lymphoproliferative syndrome with defective FAS or FAS-ligand functions. J Clin Immunol. 2018;38(5):558–568. doi:10.1007/s10875-018-0523-x.
  • Ben-Mustapha I, Agrebi N, Barbouche MR. Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. J Leukoc Biol. 2018;103(3):501–508. doi:10.1002/JLB.5MR0817-332R.
  • Hsu AP, Dowdell KC, Davis J, et al. Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. Genet Med. 2012;14(1):81–89. doi:10.1038/GIM.0B013E3182310B7D.
  • Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–443. doi:10.1038/s41586-020-2308-7.
  • Karczewski KJ, Weisburd B, Thomas B, et al. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 2017;45(D1):D840–D845. doi:10.1093/nar/gkw971.
  • Sherry ST, Ward MH, Kholodov M, et al. DbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–311. doi:10.1093/nar/29.1.308.
  • Martin FJ, Amode MR, Aneja A, et al. Ensembl 2023. Nucleic Acids Res. 2023;51(D1):D933–D941. doi:10.1093/nar/gkac958.
  • Kakadia PM, Van de Water N, Browett PJ, Bohlander SK. Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control. Sci Rep. 2018;8(1):13751. doi:10.1038/s41598-018-31503-5.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30.
  • Bleesing JJH, Brown MR, Novicio C, et al. A composite picture of TcRα/β+ CD4–CD8-T cells (α/β-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol. 2002;104(1):21–30. doi:10.1006/clim.2002.5225.
  • Allison A. Mechanisms of action of mycophenolate mofetil. Lupus. 2005;14 Suppl 1(3_suppl):s2–s8. doi:10.1191/0961203305lu2109oa.
  • George LA, Teachey DT. Optimal management of autoimmune lymphoproliferative syndrome in children. Paediatr Drugs. 2016;18(4):261–272. doi:10.1007/s40272-016-0175-3.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.