Combined immunodeficiency due to ZAP70 deficiency

MONDO:0010023

Combined immunodeficiency due to ZAP70 deficiency is 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.

Also known as: zeta-associated-protein 70 deficiency, IMD48, STCD, ZAP-70 deficiency, immunodeficiency 48, selective T-cell defect, severe combined immunodeficiency due to ZAP70 deficiency

16 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Immune system disorder (140) Immunodeficiency disease (48) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 11 Not yet finished but already full! 1 Completed 3 Terminated 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Combined immunodeficiency due to ZAP70 deficiency

Broader categories

Newborn screening study aims to catch rare diseases at birth