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Severe Combined Immunodeficiency, RAG type
Omenn Syndrome, RAG or DCLRE1C types
Severe Combined Immunodeficiency, DCLRE1C type
RAG1 and RAG2
DCLRE1C
Mutations in several different genes can cause severe combined immune deficiency (SCID). Patients present in infancy with persistent severe viral, bacterial, protozoal or fungal infections, 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.
Two genes or gene complexes that often have a circulating lymphocyte profile described as T- B- NK+ are the RAG complex (RAG1 and RAG2) and the DCLRE1C gene (aka ARTEMIS). Both are associated with an autosomal recessive inheritance pattern. This lymphocyte profile is distinct from the T- B+ NK- profile often seen in the more common disorder X-linked SCID and also in the autosomal recessive form of SCID that is associated with the JAK3 gene. A third profile, T-B-NK-, is associated with SCID caused by adenosine deaminase (ADA) deficiency. In addition, mutations in the RAG complex or in DCLRE1C also can cause Omenn Syndrome, an immune deficiency with some residual T cell clones and a characteristic erythroderma and eosiniophilia.
Testing is offered separately for the RAG complex and DCLRE1C by a combination of sequencing and (NEW) array-based duplication and deletion testing. For RAG1 and RAG2, sequencing is the primary method and if only one mutation is found then duplication/deletion testing will be added as a courtesy. For DCLRE1C, both sequencing and duplication/deletion testing are always performed since large deletions are quite common. For more details see the linked Information Sheets below.
Information Sheet for RAG test
Consent Document for RAG test
Information Sheet for DCLRE1C (aka ARTEMIS) test
Consent Document for DCLRE1C (aka ARTEMIS) test
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
SCID, Omenn, Severe combined immunodeficiency, immunodeficiency, RAG, immune deficiency, T cell, B cell, NK cell, natural killer, eosinophilia, tonsil, absent tonsil, lymph node, immune deficiency, T cell, B cell, NK cell, natural killer, tonsil, absent tonsil, lymph node, radiosensitive, Athabascan, Navajo, recombination, DNA cross link repair, Ath
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