Abstract
Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelomonocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD).
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Autoimmune Diseases / genetics*
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Autoimmune Diseases / immunology
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Autoimmune Diseases / pathology
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Autoimmune Lymphoproliferative Syndrome / genetics*
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Autoimmune Lymphoproliferative Syndrome / immunology
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Autoimmune Lymphoproliferative Syndrome / pathology
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Female
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Humans
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Infant
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Male
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Mutation*
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Proto-Oncogene Proteins / genetics*
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Proto-Oncogene Proteins p21(ras)
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ras Proteins / genetics*
Substances
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KRAS protein, human
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Proto-Oncogene Proteins
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Proto-Oncogene Proteins p21(ras)
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ras Proteins