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Items: 2

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.

Autoimmune disease, multisystem, infantile-onset, 2

Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. [from MONDO]

MedGen UID:
934735
Concept ID:
C4310768
Disease or Syndrome

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