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Updated: Jan 21, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Autosomal recessive hyper-IgE syndrome successfully treated with hematopoietic stem cell transplantation
Jorge Lopes1, Diogo Teixeira1, Cristina Sousa1
1Department of Dermatology, Vila Nova de Gaia/Espinho Hospital Center, Vila Nova de Gaia, Portugal.
Abstract:
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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