Severe Combined Immunodeficiency Disease (SCID)

OVERVIEW

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?

Initial Presentation

  • Re-current infections: sever viral/fungal/opportunistic infections
  • Failure to thrive
  • Chronic diarrhea 
CLINICAL WORKUP

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
TREATMENT

Stem cell transplant

ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

 

Page Updated: 11.26.2016