APECED

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) is diagnosed in patients who have 2 of the triad of adrenal insufficiency (Addison disease), hypoparathyroidism, and chronic mucocutaneous candidiasis. Some allelic variants, in particular the IranianJewish polyglandular syndrome, are recognized with only parathyroid involvement. Polyendocrinopathy can include IDDM, hypergonadotropic hypogonadism, and autoimmune thyroid disease. Other autoimmune manifestations can include hepatitis, malabsorption, alopecia, vitiligo, and pernicious anemia. Typically candidiasis appears in early childhood, followed by hypoparathyroidism and then Addison disease, but presentation and severity can vary.

Tests Available

Forms and Documents

Test Details

AIRE
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

1393
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81406x1
No
Yes
  • 112 Candidiasis Includes: infection by Candida species moniliasis
  • 255.4 Corticoadrenal insufficiency
  • 252.1 Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
* For price inquiries please email zebras@genedx.com

References

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747

Forms and Documents

Test Details

AIRE
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

1392
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81479x1
No
Yes
  • 112 Candidiasis Includes: infection by Candida species moniliasis
  • 255.4 Corticoadrenal insufficiency
  • 252.1 Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
* For price inquiries please email zebras@genedx.com

References

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747

Forms and Documents

Test Details

AIRE
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

1391
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81479x1
No
Yes
  • 112 Candidiasis Includes: infection by Candida species moniliasis
  • 255.4 Corticoadrenal insufficiency
  • 252.1 Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
* For price inquiries please email zebras@genedx.com

References

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747