Letters to the Editor
Vol. 16 No. 1 (2024): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor

Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter

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Received: November 26, 2023
Accepted: February 8, 2024
Published: February 29, 2024
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Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte  apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene.

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Citations

Speckmann C, Borkhardt A, Gaspar HB et al (2017) Genetic disorders of immune regulation. In: Primary immunodefciency diseases. Springer-Verlag Berlin Heidelberg 2017:295–338
Oliveira, Joao B et al. “Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.” Blood vol. 116,14 (2010): e35-40. doi:10.1182/blood-2010-04-280347
Neven, Quentin et al. “Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).” Journal of clinical immunology vol. 41,1 (2021): 51-58. doi:10.1007/s10875-020-00883-7
Masatoshi Takagi, Kunihiro Shinoda, Jinhua Piao, Noriko Mitsuiki, Mari Takagi, Kazuyuki Matsuda, Hideki Muramatsu, Sayoko Doisaki, Masayuki Nagasawa, Tomohiro Morio, Yoshihito Kasahara, Kenichi Koike, Seiji Kojima, Akira Takao, Shuki Mizutani; Autoimmune lymphoproliferative syndrome–like disease with somatic KRAS mutation. Blood 2011; 117 (10): 2887–2890
Alperin JM, Ortiz-Fernández L and Sawalha AH (2018) Monogenic Lupus: A Developing Paradigm of Disease. Front. Immunol. 9:2496. doi: 10.3389/fimmu.2018.02496
Webb R, Kelly JA, Somers EC, Hughes T, Kaufman KM, Sanchez E, et al. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients. Ann Rheum Dis. (2011) 70:151–6. doi: 10.1136/ard.2010.141697
.E. Niemela, L. Lu, T.A. Fleisher, J. Davis, I. Caminha, M. Natter, L.A. Beer, K.C. Dowdell, S. Pittaluga, M. Raffeld, V.K. Rao, J.B. Oliveira, Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis, Blood 117 (2011) 2883–2886.
Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, Del Bel KL, TarailoGraovac M, van Karnebeek C, et al. The importance of considering monogenic causes of autoimmunity: a somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus. Clin Immunol. 2017;175:143–6
Huang, Lamei et al. “KRAS mutation: from undruggable to druggable in cancer.” Signal transduction and targeted therapy vol. 6,1 386. 15 Nov. 2021, doi:10.1038/s41392-021-00780-4

How to Cite



“Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter ” (2024) Mediterranean Journal of Hematology and Infectious Diseases, 16(1), p. e2024033. doi:10.4084/MJHID.2024.033.