ZAP70 deficiency
MeSH: C537590ORPHA: 911
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ZAP70 deficiency, sourced from HPO and Orphanet clinical annotations.
Recurrent bacterial infectionsRecurrent viral infectionsRecurrent opportunistic infectionsDecreased mitogen-induced T-cell proliferationFailure to thriveChronic diarrheaPneumoniaRecurrent infection of the gastrointestinal tractDecreased CD8+ T cell proportionAbsence of CD8-positive T cellsChronic oral candidiasisRecurrent upper and lower respiratory tract infectionsNephrotic syndromeSkin rashStrokeHepatosplenomegalyIncreased total eosinophil countColitisLymphadenopathyChronic mucocutaneous candidiasisAbnormal lymph node morphologyLymphadenitisRecurrent bacterial skin infectionsStomatitisRecurrent mycobacterial infectionsIncreased total lymphocyte countAutoimmune hemolytic anemiaAutoimmune thrombocytopeniaLymphomaLymphoproliferative disorder
Classification & Codes
MeSH Code
C537590Orphanet Code
ORPHA:911ZAP70 deficiency
| MeSH | C537590 |
| Orphanet | ORPHA:911 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO