Severe Combined Immune Deficiency (SCID)

Severe combined immunodeficiency (SCID) can be caused by mutations in a variety of genes. Although the clinical presentation can vary depending on which gene carries a mutation, there are several common characteristics observed throughout the different forms of SCID. Patients will typically present in infancy with severe, persistent infections of bacterial, viral, fungal and/or protozoal origin. In addition, these individuals have poor wound healing and failure to thrive. In states where newborn screening includes the TREC test for poor maturation of T cells, presymptomatic infants may be identified. T-cell lymphopenia is common to almost all forms of SCID, while the presence/absence of B-cells and NK-cells varies and can be used to help determine appropriate genetic testing. The prevalence of SCID in the general population is approximately 1/50,000 live births, with males showing a higher prevalence as the most common form of SCID is X-linked.

Tests Available

Forms and Documents

Test Details

ADA, AK2, DCLRE1C (ARTEMIS), LIG4, NHEJ1, PRKDC, RAC2, RAG1, RAG2
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

603
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x8
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.

Forms and Documents

Test Details

ATM, CD3D, CD3E, CD3Z, CORO1A, DOCK8, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STIM1, TBX1, ZAP70
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

602
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x9
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018.
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4.
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.

Forms and Documents

Test Details

ADA, AK2, ATM, CD3D, CD3E, CD3Z, CORO1A, DCLRE1C (ARTEMIS), DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, STIM1, TBX1, ZAP70
  • Differential diagnosis for the multiple types of SCID
  • Follow-up testing after confirmed abnormal neonatal screen for T cell deficiency
  • Post-mortem diagnosis and mutation identification in recessive or X-linked SCID using parental DNA
  • Confirmation of a clinical diagnosis
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

601
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81408x1, 81479x17
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Puck, JM, 2007, Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, J Allergy Clin Immunol 120:760-768.
  2. Aloj G, et al., 2012, Severe Combined Immunodeficiencies: New and Old Scenarios, Internat Revs of Immunol 31:43-65.
  3. Buckley, RH, 2004, The multiple causes of human SCID, J Clin Imm 114:1409-11.
  4. Roberts, JL, 2004, Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation, Blood 103:2009-2018.
  5. Butte MJ et al., 2007, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD, Clinical Immunology 125(2):159-64.
  6. Fischer A et al., 2005, Severe combined immunodeficiency, a model disease for molecular immunology and therapy, Immunological Reviews. 203:98-109.
  7. Frank J et al., 1999, Exposing the human nude phenotype, Nature. 1999 398:473-4
  8. Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.