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1.

Combined immunodeficiency due to ZAP70 deficiency

ZAP70-related combined immunodeficiency (ZAP70-related CID) 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 candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT). [from GeneReviews]

MedGen UID:
1809040
Concept ID:
C5575025
Disease or Syndrome
2.

ZAP70-Related Severe Combined Immunodeficiency

A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. [from SNOMEDCT_US]

MedGen UID:
419767
Concept ID:
C2931299
Disease or Syndrome

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