combined immunodeficiency due to ZAP70 deficiency
Findings
No curated finding names combined immunodeficiency due to ZAP70 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010023), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absence of CD8+ T cellsHPOHP:0005422
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Absent circulating isohemagglutininHPOHP:0410293
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 1 reported patient
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 2 of 2 reported patients
- Decreased CD4+ T cell ZAP-70 protein expressionHPOHP:6001096
- 2 of 2 reported patients
Show the remaining 34
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Very frequent (80% to 99% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Very frequent (80% to 99% of cases)
- Recurrent opportunistic infectionsHPOHP:0005390
- Very frequent (80% to 99% of cases)
- Recurrent viral infectionsHPOHP:0004429
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZAP70HGNC:12858
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: combined immunodeficiency due to ZAP70 deficiency
- Also called
- zeta-associated-protein 70 deficiency