Abstract
Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune lymphoproliferative syndrome like disorder with significant B-cell proliferation particularly of immature B cells. Here we report a child with a novel mutation in PRKCD gene who presented with CMV infection and an early onset SLE-like disorder which was successfully treated with hydroxychloroquine.
Keywords:
Protein kinase delta c; autoimmunity; lupus-like disorders.
MeSH terms
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Antirheumatic Agents / administration & dosage*
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Autoimmune Lymphoproliferative Syndrome / drug therapy
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Autoimmune Lymphoproliferative Syndrome / genetics
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Autoimmune Lymphoproliferative Syndrome / immunology*
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B-Lymphocytes / immunology*
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Child, Preschool
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Cytomegalovirus / immunology*
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Cytomegalovirus Infections / drug therapy
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Cytomegalovirus Infections / immunology*
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Humans
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Hydroxychloroquine / administration & dosage*
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Infant
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Killer Cells, Natural / immunology*
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Lupus Erythematosus, Systemic / drug therapy
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Lupus Erythematosus, Systemic / genetics
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Lupus Erythematosus, Systemic / immunology*
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Male
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Mutation / genetics
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Protein Kinase C-delta / genetics*
Substances
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Antirheumatic Agents
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Hydroxychloroquine
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PRKCD protein, human
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Protein Kinase C-delta