Severe Combined Immune Deficiency (SCID), DCLRE1C Type

DCLRE1C mutations cause a T and B cell deficient form of SCID that is clinically indistinguishable from a RAG1/RAG2 disorder. Infants present with severe recurrent viral, bacterial or fungal infections and failure-to-thrive. All three genes encode enzymes required for VDJ recombination in T and B cells during lymphocyte maturation. Defects in DCLRE1C should be distinguished from RAG defects because the former have an additional feature, increased sensitivity to ionizing radiation. Additionally, both RAG and DCLRE1C disorders can present as Omenn syndrome, with residual levels of oligoclonal T cells, erythroderma and eosinophilia

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.