Combined immunodeficiency due to ZAP70 deficiency

Orpha code: 911OMIM code: 269840

Definition

A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

Disease data
Classification

Disease

Synonyms
Zeta-associated-protein 70 deficiency
Niedobór białak 70 związanego z łańcuchem zeta
ORPHA code
911
OMIM code
269840
ICD10 code
D81.8
ICD11 code
4A01.1Y

No additional description.

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