Premium
Autosomal recessive hyper‐IgE syndrome successfully treated with hematopoietic stem cell transplantation
Author(s) -
Lopes Jorge,
Teixeira Diogo,
Sousa Cristina,
Baptista Armando,
Moreira Diana,
Ferreira Eduarda O.
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13919
Subject(s) - hematopoietic stem cell transplantation , medicine , primary immunodeficiency , immunoglobulin e , atopy , immunology , transplantation , stem cell , immunodeficiency , immunopathology , genetics , antibody , biology , immune system
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.