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 Details

SPINK5
  • Confirmation of the clinical diagnosis
  • To distinguish NTS from other forms of NCIE
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

127
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 795.79 Other and unspecified nonspecific immunological findings, Raised antibody titer, Raised level of immunoglobulins
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Chavanas et al. Nat Genet. 25(2):141-142, 2000
  2. Sprecher et al. J Invest Dermatol 117(2):179-87, 2001
  3. Bitoun et al. J Invest Dermatol 118:352-361, 2002a
  4. Bitoun et al. Prenat Diagn. 22(2):121-126, 2002b
  5. Richard et al. Netherton Syndrome: J Invest Dermatol 122:483A, 2004

Forms and Documents

Test Details

STAT3
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3123
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 513 Abscess of lung and mediastinum
  • 680.x Boil
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
  • 482.x Other pneumonia
  • 481 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia], Lobar pneumonia, organism unspecified
* For price inquiries please email zebras@genedx.com

References

  1. Renner ED et al., STAT3 mutation in the original patient with Job’s syndrome, NEJM 357:1667- 1668, 2007
  2. Holland SM et al., STAT3 mutations in the Hyper-IgE syndrome, NEJM 357:1608-1619, 2007
  3. Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome, Nature 448:1058-1062, 2007

Forms and Documents

Test Details

STAT3
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3122
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 513 Abscess of lung and mediastinum
  • 680.x Boil
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
  • 482.x Other 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 hyper-IgE 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

Forms and Documents

Test Details

STAT3
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

312
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 513 Abscess of lung and mediastinum
  • 680.x Boil
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
  • 482.x Other 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 hyper-IgE 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

Forms and Documents

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, 81479x3
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.

Forms and Documents

Test Details

DOCK8
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

736
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
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
  • 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.

Forms and Documents

Test Details

DOCK8
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

679
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
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.