immunodeficiency 134 (Epstein-Barr virus-specific)
MONDO:0980729Mondo
Findings
No curated finding names immunodeficiency 134 (Epstein-Barr virus-specific) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 1 reported patient
- Decreased effector memory CD4+ T cell proportionHPOHP:0025624
- 3 of 3 reported patients
- Decreased effector memory CD8+ T cell proportionHPOHP:0410390
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 3 of 3 reported patients
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- HepatitisHPOHP:0012115
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 3 of 3 reported patients
Show the remaining 14
- HyperleukocytosisHPOHP:6001425
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 2 of 2 reported patients
- Increased total B cell countHPOHP:0005404
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- PharyngalgiaHPOHP:0033050
- 1 of 1 reported patient
Where it sits
- A kind of