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combined immune deficiency; severe combined immunodeficiency disease (SCID CID)
Epidemiology: rare
Pathology:
- impairment of both humoral & cell-mediated immunity
- leukopenia
- low or absent antibody levels
- absence of T-cell-mediated cellular immunity due to a defect in T-cell development
Genetics:
- genetically heterogeneous
Clinical manifestations:
- clinically heterogeneous
- generally, patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms
Laboratory:
- see ARUP consult [1]
Management:
- avoid live virus vaccines, BCG
Specific
Athabascan severe combined immunodeficiency disease
Nezelof syndrome; combined immunodeficiency with normal immunoglobulins
selective T-cell defect
severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency
severe combined immunodeficiency disease due to CRACM1 defect
severe combined immunodeficiency disease due to NHEJ1 defect
severe combined immunodeficiency disease with sensitivity to ionizing radiation (RS-SCID)
severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive type
severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive/NK-positive (SCIDBNK) type
severe combined immunodeficiency disease, B-cell negative
X-linked severe combined immunodeficiency (Swiss type agammaglobulinemia)
General
genetic disease of the immune system
mixed cellular & humoral immune dysfunction
References
- ARUP Consult: Severe Combined Immunodeficiencies - SCID
The Physician's Guide to Laboratory Test Selection & Interpretation
https://arupconsult.com/content/severe-combined-immunodeficiencies
- Trimble R et al
Vaccine-Associated Paralytic Poliomyelitis and BCG-osis in an
Immigrant Child with Severe Combined Immunodeficiency Syndrome
- Texas, 2013
MMWR Weekly, August 22, 2014 / 63(33);721-724
http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6333a1.htm