Severe Combined Immune Deficiency (SCID), RAG Type

There are several types of severe combined immune deficiency (SCID). All patients lack both the cellular and humoral arms of the immune system and present in infancy with persistent severe viral, bacterial, protozoan or fungal infections along with rashes, diarrhea, poor wound healing, and failure-to-thrive. T-cell lymphopenia is characteristic of all forms of SCID, but the presence of B cells and NK cells is variable depending on the genes involved. In RAG1 or RAG2 deficiency, the typical circulating lymphocyte profile is T–B–NK+. This profile is distinct from the more common X-linked SCID, which most often has the profile T–B+NK–, as well as from ADA-deficient SCID which has the profile T–B–NK–.

Tests Available

Forms and Documents

Test Details

  • 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


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


  • 279.2 Combined immunity deficiency
* For price inquiries please email


  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