1.
Int J Dermatol
; 59(9): e340-e341, 2020 Sep.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32613607
2.
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.