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Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
Eleonore D Renner1, Jennifer M Puck, Steven M Holland
1Department of Infectious Diseases and Clinical Immunology, University Children's Hospital, Dr v. Haunersches Kinderspital, Munich, Germany.
The Journal of Pediatrics
|January 15, 2004
Summary
Autosomal-recessive hyperimmunoglobulin E syndrome (AR-HIES) is a distinct primary immunodeficiency. AR-HIES presents with severe infections, autoimmunity, CNS issues, and high mortality, differing from the dominant form.
Area of Science:
- Immunology
- Genetics
- Neurology
Background:
- Autosomal-dominant hyperimmunoglobulin E syndrome (AD-HIES) is a multisystem disorder with immune, skeletal, and dental issues.
- The genetic basis and clinical spectrum of AD-HIES variants are not fully understood.
Purpose of the Study:
- To characterize the clinical and immunological features of autosomal-recessive hyperimmunoglobulin E syndrome (AR-HIES).
- To differentiate AR-HIES from AD-HIES and establish it as a distinct disease entity.
Main Methods:
- Evaluation of 13 human immunodeficiency virus-seronegative patients with AR-HIES from six consanguineous families.
- Assessment of 68 relatives.
- Lymphocyte proliferation assays to assess immune cell function.
Main Results:
- AR-HIES patients exhibited recurrent staphylococcal, fungal, and viral infections, eczema, elevated IgE, and hypereosinophilia.
- Central nervous system sequelae, including hemiplegia and infarction, were common, leading to high mortality.
- Unlike AD-HIES, AR-HIES patients lacked skeletal/dental abnormalities and pneumatoceles; their lymphocytes showed poor response to mitogens and antigens.
Conclusions:
- AR-HIES is a primary immunodeficiency characterized by elevated IgE, eosinophilia, vasculitis, autoimmunity, CNS symptoms, and high mortality.
- AR-HIES is a distinct disease entity, differing significantly from AD-HIES in its clinical presentation and lack of specific features.