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primary T-cell immunodeficiency

Genetics: - associated with defects in CD247 Clinical manifestations: - recurrent infections. Laboratory: - T-cell counts are very low - B-cell counts are normal

General

cellular immune dysfunction

Database Correlations

OMIM 610163

References

  1. UniProt :accession P20963
  2. ARUP Consult: Inherited T-Cell Deficiency Disorders The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/t-cell-deficiency-disorders-inherited