Abstract
Purpose of review:
Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders.
Recent findings:
The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in a gene encoding a protein kinase C (PRKCD) were discovered to cause a syndrome of lymphoproliferation, autoimmunity and natural killer cell defect.
Summary:
The recent discoveries shed light on the molecular pathways governing lymphocyte death, proliferation and immune tolerance in humans.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Apoptosis / genetics
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Apoptosis / immunology*
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Autoimmune Lymphoproliferative Syndrome / diagnosis*
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Autoimmune Lymphoproliferative Syndrome / genetics
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Autoimmune Lymphoproliferative Syndrome / immunology
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Autoimmunity / genetics
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Cell Proliferation
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Fas-Associated Death Domain Protein / immunology
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Female
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Genes, ras* / genetics
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Genes, ras* / immunology
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Humans
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Immune Tolerance / genetics
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Immune Tolerance / immunology*
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Inflammation / genetics
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Inflammation / immunology*
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Inflammation / pathology
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Male
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Mutation / immunology
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Protein Kinase C-delta / immunology
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Signal Transduction / genetics
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Signal Transduction / immunology
Substances
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FADD protein, human
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Fas-Associated Death Domain Protein
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PRKCD protein, human
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Protein Kinase C-delta