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

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 syndro...

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Bibliographic Details
Published in:Pediatric dermatology 2019-09, Vol.36 (5), p.693-696
Main Authors: Lopes, Jorge, Teixeira, Diogo, Sousa, Cristina, Baptista, Armando, Moreira, Diana, Ferreira, Eduarda O.
Format: Article
Language:English
Subjects:
Atopy
Autoimmune diseases
Case reports
Child
Eczema
Female
genodermatoses
Hematopoietic Stem Cell Transplantation
Hematopoietic stem cells
Humans
Immune system
Immunodeficiency
Immunoglobulin E
Job Syndrome - diagnosis
Job Syndrome - therapy
Pediatrics
Primary immunodeficiencies
Remission
Skin
Stem cell transplantation
Stem cells
Transplants & implants
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13919