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    Hyperimmunoglobulinemia E Syndrome

    Hyperimmunoglobulinemia E Syndrome is a topic covered in the Select 5-Minute Pediatrics Topics.

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    Basics

    Description

    Hyperimmunoglobulinemia E syndrome (HIES) is a primary immunodeficiency with markedly elevated serum IgE associated with recurrent skin abscesses, pulmonary infections, and eczematoid dermatitis.

    Epidemiology

    • Rare
    • True incidence and prevalence is unknown; affects equal numbers of males and females

    Risk Factors

    Genetics

    • Autosomal dominant cases (AD-HIES) are caused by mutations in signal transducer and activator of transcription 3 (STAT3).
    • Autosomal recessive cases (AR-HIES) have mutations in the dedicator of cytokinesis-8 gene (DOCK8).
    • AR-HIES patients differ in phenotype from AD-HIES patients.
    • Sporadic cases do occur.

    Pathophysiology

    • STAT3 is integral in secretion and signaling of multiple cytokines involved in proinflammatory and anti-inflammatory responses.
    • A failure of Th 17 cell differentiation and failure of IL-17 secretion makes patients susceptible to Candida infections.
    • Deficiency in IL-11 signaling results in tooth abnormalities and craniosynostosis.
    • DOCK8 deficiency results in failure of dendritic cells to migrate to lymph nodes and affects long-term memory B cells and viral-specific CD8+ T cells.

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    Citation

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    TY - ELEC T1 - Hyperimmunoglobulinemia E Syndrome ID - 14204 ED - Cabana,Michael D, BT - Select 5-Minute Pediatrics Topics UR - https://im.unboundmedicine.com/medicine/view/Select-5-Minute-Pediatric-Consult/14204/all/Hyperimmunoglobulinemia_E_Syndrome PB - Wolters Kluwer Health ET - 7 DB - Medicine Central DP - Unbound Medicine ER -