Autosomal recessive hyper-IgE syndrome successfully treated with hematopoietic stem cell transplantation

Pediatr Dermatol. 2019 Sep;36(5):693-696. doi: 10.1111/pde.13919. Epub 2019 Jul 24.


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.

Keywords: eczema; genodermatoses; immunodeficiency.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Job Syndrome / diagnosis*
  • Job Syndrome / therapy*