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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency
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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency
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Journal Article
Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency
2015
Overview
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.
Publisher
Springer US
Subject
Antirheumatic Agents - administration & dosage
/ Autoimmune Lymphoproliferative Syndrome - drug therapy
/ Autoimmune Lymphoproliferative Syndrome - genetics
/ Autoimmune Lymphoproliferative Syndrome - immunology
/ Cytomegalovirus - immunology
/ Cytomegalovirus Infections - drug therapy
/ Cytomegalovirus Infections - immunology
/ Humans
/ Hydroxychloroquine - administration & dosage
/ Infant
/ Killer Cells, Natural - immunology
/ Lupus Erythematosus, Systemic - drug therapy
/ Lupus Erythematosus, Systemic - genetics
/ Lupus Erythematosus, Systemic - immunology
/ Male
