Hyper-IgE syndrome (HIES) [21 genes]

There are two main forms of hyper-IgE syndrome (HIES) based on the altered gene and mode of inheritance: autosomal dominant (AD-HIES or Job syndrome), mainly caused by mutations in the STAT3 gene, which is involved in the maturation of T cells, specifically Th17 cells; and the more severe autosomal recessive form (AR-HIES) , which is generally explained by alterations in the DOCK8 gene, implicated in the
stimulation of B cells and in the maintenance of the structure and integrity of T cells and NK cells. However, alterations in other genes explain the less common forms of the disease.

  • Respiratory and skin infections
  • Elevated IgE levels
  • Eczema
  • Eosinophilia
  • Asthma, Allergy, Autoimmunity, Immunodeficiency (AR-HIES)
  • Joint, dental and bone problems (AD-HIES)
  • Onset: neonatal, infancy

  • 1:10,000 – 1:100,000 (AD-HIES)
  • 1:100,000-1:1,000,000 (AR-HIES)

  • Diagnosis and genetic counseling
  • Skin hydration
  • Antifungals
  • Antibiotic prophylaxis
  • Ig replacement (IVIG)
  • Hematopoietic stem cell transplantation (HSCT)

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Hyper-IgE syndrome (HIES)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110264

Hyper-IgE syndrome (HIES): View panel
  • ARPC1B
  • CARD11
  • DOCK2
  • DOCK8
  • ERBIN
  • EXTL3
  • FOXP3
  • IL21R
  • IL6
  • IL6R
  • IL6ST
  • PGM3
  • PHF11
  • SPINK5
  • STAT3
  • STAT5B
  • STK4
  • TYK2
  • WAS
  • WIPF1
  • ZNF341

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunol Allergy Clin North Am. 2008;28(2):277-91, viii. doi:10.1016/j.iac.2008.01.005
  2. Genetics Home Reference. Autosomal dominant hyper-IgE syndrome. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#. Accessed April 11, 2018.
  3. Genetics Home Reference. Autosomal recessive hyper-IgE syndrome. https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome#genes. Accessed April 11, 2018.
  4. Immune Deficiency Foundation (IDF). Hyper IgE Syndrome. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/hyper-ige-syndrome. Accessed April 11, 2018.
  5. Sowerwine, K. J., Holland, S. M., & Freeman, A. F. (2012). Hyper-IgE syndrome update. Annals of the New York Academy of Sciences, 1250(1), 25–32. https://doi.org/10.1111/j.1749-6632.2011.06387.x