Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
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-hemat...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mattioli1885
2024-02-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
| Subjects: | |
| Online Access: | https://www.mjhid.org/mjhid/article/view/5571 |
| Summary: | 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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| ISSN: | 2035-3006 |