Hyper-IgE Syndrome (HIES)

Hyper-IgE syndromes caused by mutations in the STAT3 and DOCK8 genes are characterized by eczema, sinopulmonary infections and greatly elevated serum IgE. Elevated IgE has also been observed in an individual with TYK2 deficiency and in individuals with Netherton syndrome, a disorder associated with mutations in the SPINK5 gene.

Tests Available

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DOCK8, SPINK5, STAT3, TYK2
  • Differential diagnosis for patients with elevated IgE
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

678
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81479x1
Yes
Yes
  • 513 Abscess of lung and mediastinum
  • 680 Carbuncle and furuncle Includes: boil furunculosis
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
  • 482 Other bacterial pneumonia
  • 481 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia], Lobar pneumonia, organism unspecified
* For price inquiries please email zebras@genedx.com

References

  1. Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyperIgE syndrome, Nature 448:1058-1062, 2007
  2. Holland SM et al., STAT3 mutations in the Hyper-IgE syndrome, NEJM 357:1608-1619, 2007.
  3. Renner ED et al., STAT3 mutation in the original patient with Job’s syndrome, NEJM 357:1667-1668, 2007
  4. Schimke, LF et al, Diagnostic approaches to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis, J Allergy Clin Immunol, 126:611- 617, 2010.
  5. Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations, NEJM 361:2046- 2055, 2009.
  6. gelhardt, KR, et al., Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome, J Allergy Clin Immunol 124:1289- 1302, 2009.