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severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive type

Pathology: - absence of circulating mature T-lymphocytes & NK cells - normal to elevated numbers of nonfunctional B-lymphocytes - marked hypoplasia of lymphoid tissues Genetics: - associated with defects in JAK3

Database Correlations

OMIM 600802

References

  1. ARUP Consult: Severe Combined Immunodeficiencies - SCID The Physician's Guide to Laboratory Test Selection & Interpretation https://arupconsult.com/content/severe-combined-immunodeficiencies
  2. 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