Autosomal recessive hyper‐IgE syndrome successfully treated with hematopoietic stem cell transplantation. Issue 5 (24th July 2019)

• Record Type: Journal Article
• Authors: Lopes, Jorge; Teixeira, Diogo; Sousa, Cristina; Baptista, Armando; Moreira, Diana; Ferreira, Eduarda O.
• Is Part Of: Pediatric dermatology. Volume 36:Issue 5(2019)
• Page Start: 693
• Page End: 696
• Publication Date: 2019-07-24
• Subjects: eczema -- genodermatoses -- immunodeficiency; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13919
• Languages: English
• ISSNs: 0736-8046

Abstract

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.