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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 [...]
+ Mutation-specific testing + Prenatal testingDCLRE1C 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
+ Mutation-specific testing + Prenatal testingTests Available
DCLRE1C Gene Sequencing & Deletion
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- DCLRE1C (ARTEMIS)
- Clinical Utility:
-
- Confirmation of a clinical diagnosis, especially to identify the associated radiosensitivity.
- Selection of appropriate treatment
- Identification of at-risk family members
- Prenatal diagnosis
- Lab Method:
- Capillary Sequencing, Exon Array CGH
ORDERING
- Test Code:
- 1501
- Turnaround Time:
- 6-7 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $2,400.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 279.2: Combined immunity deficiency
REFERENCES
- Li L et al., 2002, A founder mutation in Artemis, ans SNM1-like protein, causes SCID in Athabascanspeaking Native Americans, J Immunol 168:6323
- Ege, M. et al., Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179-4186, 2005.
- 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.
