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Pediatr Dermatol ; 36(5): 693-696, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31338855

RESUMEN

Autosomal recessive hyper-IgE syndrome is a primary immunodeficiency that results from a mutation in the DOCK8 gene. We report a case of a patient presenting with severe eczema, atopy, and recurrent skin infections since the first months of life. The diagnosis of autosomal recessive hyper-IgE syndrome was made at the age of 7 by a positive DOCK8 genetic test. The patient underwent hematopoietic stem cell transplantation, with complete remission of the various manifestations.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Síndrome de Job/diagnóstico , Síndrome de Job/terapia , Niño , Femenino , Humanos
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