Omenn Syndrome

Omenn Syndrome is also known as Combined Immune Deficiency with Hypereosinophilia. Both DCLRE1C and RAG disorders can present as Omenn syndrome. Patients have oligoclonal T cells that invade the skin, liver, spleen and gut. Humoral immunity is absent but IgE levels can be high. Exudative erythroderma with lymphadenopathy and hepatosplenomegaly are characteristic.

Tests Available

Forms and Documents

Test Details

DCLRE1C (ARTEMIS)
  • Confirmation of a clinical diagnosis, especially to identify the associated radiosensitivity.
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1502
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 279.2 Combined immunity deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Li L et al., 2002, A founder mutation in Artemis, ans SNM1-like protein, causes SCID in Athabascanspeaking Native Americans, J Immunol 168:6323
  2. Ege, M. et al., Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179-4186, 2005.
  3. Moshous, D. et al., Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186, 2001.

Forms and Documents

Test Details

DCLRE1C (ARTEMIS)
  • Confirmation of a clinical diagnosis, especially to identify the associated radiosensitivity.
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1501
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 279.2 Combined immunity deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Li L et al., 2002, A founder mutation in Artemis, ans SNM1-like protein, causes SCID in Athabascanspeaking Native Americans, J Immunol 168:6323
  2. Ege, M. et al., Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179-4186, 2005.
  3. Moshous, D. et al., Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186, 2001.

Forms and Documents

Test Details

RAG1, RAG2
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from other types of SCID
  • Carrier testing in siblings or other relatives
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

147
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x2
No
Yes
  • 279.2 Combined immunity deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Schwarz K et al, 1996, Science 274:97, RAG mutations in human B-cell negative SCID
  2. Schuetz, C. et al, 2008, NEJM 358: 2030: An immunodeficiency disease with RAG mutations and granulomas. New Eng. J. Med. 358: 2030-2038, 2008
  3. Noordzij J et al., 2001, Blood 100:2145, The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins
  4. Corneo B, et al, 2001, Blood 97:2772, Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase…either T-B-severe combined immune deficiency or Omenn syndrome
  5. Villa A et al., 2001, Blood 97:8, V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations