GTR Home > Conditions/Phenotypes > ZAP70 deficiency


ZAP70-related severe combined immunodeficiency (ZAP70-related SCID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower respiratory infections and oral moniliasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT). [from GeneReviews]

Clinical features

  • Splenomegaly
  • Panhypogammaglobulinemia
  • Recurrent candida infections
  • Diarrhea
  • Failure to thrive
  • Eczematoid dermatitis
  • Pneumonia
  • Hepatomegaly
Show all (8)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk