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Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)

  1. Author:
    Heimall, J.
    Davis, J.
    Shaw, P. A.
    Hsu, A. P.
    Gu, W. J.
    Welch, P.
    Holl, S. M.
    Freeman, A. F.

  2. Author Address

    [Heimall, Jennifer; Hsu, Amy P.; Holland, Steven M.; Freeman, Alexandra F.] NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, Bethesda, MD 20892 USA. [Davis, Joie] NIAID, NIH, Intramural Clin Management & Operat Branch, Bethesda, MD 20892 USA. [Shaw, Pamela A.] NIAID, NIH, Biostat Res Branch, Bethesda, MD 20892 USA. [Gu, Wenjuan] SAIC Frederick Inc, NCI, Biostat Res Branch, Frederick, MD 21702 USA. [Welch, Pam] SAIC Frederick Inc, NCI, Lab Clin Infect Dis, Frederick, MD 21702 USA.;Freeman, AF, NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA.;heimallj@mail.nih.gov
    1. Year: 2011
    2. Date: Apr
  2. Journal: Clinical Immunology
    1. 139
    2. 1
    3. Pages: 75-84
  4. Type of Article: Article
  5. ISSN: 1521-6616
  1. Abstract:

    Autosomal dominant HIES (AD-HIES) is a primary immunodeficiency caused by dominant negative mutations in STAT3 clustered in the DNA binding and SH2 domains. Although in vitro differences in mutational constructs are observed, clinical phenotypic correlates of these genetic changes have not been described. We reviewed the charts of 65 AD-HIES patients (DNA binding n = 35; SH2 n = 30), recorded the components of the NIH HIES clinical scoring system as well as brain and coronary artery abnormalities and analyzed data by mutation region in adults and children. Patients with SH2 domain mutations had increased frequency of high palate, broad inter-alar distance, upper respiratory tract infections and, in the pediatric sub-group, significant scoliosis. There was suggestion of increased mortality for patients with DNA binding mutations. Although subtle differences in phenotype were observed to depend on the STAT3 genotype, overall the clinical phenotypes were similar between individuals with DNA binding and SH2 domain mutations. Published by Elsevier Inc.

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External Sources

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  2. DOI: 10.1016/j.clim.2011.01.001
  3. View record in Web of Science®
  4. WOS: 000289183500010

Library Notes

  1. Fiscal Year: FY2010-2011
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