Autosomal recessive hyper‐IgE syndrome successfully treated with hematopoietic stem cell transplantation | Zendy

Lopes Jorge | Zendy; Teixeira Diogo | Zendy; Sousa Cristina | Zendy; Baptista Armando | Zendy; Moreira Diana | Zendy; Ferreira Eduarda O. | Zendy

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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.

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