Severe combined immunodeficiency, SCIDX1 (IL2RG) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4405

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The disease occurs in males. SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections, and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. SCID-X1 results from a defect in the IL2RG gene encoding the common gamma chain. Transmission is X-linked.
Links:
OMIM Entry - # 300400 - SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
Orphanet- T B severe combined immunodeficiency due to gamma chain deficiency
OMIM Entry - - 308380 - INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

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