Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.
J Clin Immunol
; 35(6): 523-6, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26233237
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Linfocitos B
/
Células Asesinas Naturales
/
Infecciones por Citomegalovirus
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Antirreumáticos
/
Citomegalovirus
/
Proteína Quinasa C-delta
/
Síndrome Linfoproliferativo Autoinmune
/
Hidroxicloroquina
/
Lupus Eritematoso Sistémico
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Clin Immunol
Año:
2015
Tipo del documento:
Article
País de afiliación:
Turquía