Activated phosphoinositide 3-kinase δ syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 256-259, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-696371
ABSTRACT
Activated phosphoinositide 3-kinase δ (PIK3CD) syndrome is a combined immunodeficiency,caused by PIK3CD gain-of-function mutations,which encodes the catalytic subunit of PIK3CD.These patients presented with early onset sinopulmonary infections,lymphoproliferation,herpesvirus infections,autoinflammatory disease,lymphoma and mental retardation.Hyper immunoglobulin (Ig)M,IgG deficiency,CD4 lymphopenia were common immunologic features.Variable expression can lead to death and asymptom.Penetrance can be incomplete.Hematopoietie stem cell transplantation should be taken into account for severe cases.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2018
Tipo de documento:
Artigo
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