Severe combined immunodeficiency disease (SCID) is a genetic condition (either X-linked recessive or autosomal recessive) that manifests as a severe iummonodefieincy.
WHAT CASUES IT?
A gene defect leads to the failure of T-cell development. The absence of these mature T-cells subsequently is responsible for B-cell dysfunction as well.
WHAT MAKES US SUSPECT IT?
- Re-current infections: sever viral/fungal/opportunistic infections
- Failure to thrive
- Chronic diarrhea
Serum tests can reveal:
- Hypogammaglobulinemia: IgG, IgA, IgM all will be decreased in the serum
- Low levels of lymphocytes (lymphopenia): T-cell counts will be low
- Low CD4+ counts
- Low CD8+ counts
Stem cell transplant
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Page Updated: 11.26.2016