Nezelof syndrome
MONDO:0009451Mondo
Findings
No curated finding names Nezelof syndrome 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
38 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- Aplasia of the thymusHPOHP:0005359
- Obligate (100% of cases)
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Recurrent viral infectionsHPOHP:0004429
- 1 of 1 reported patient
- Cellular immunodeficiencyHPOHP:0005374
- Very frequent (80% to 99% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Very frequent (80% to 99% of cases)
- Decreased naive T cell proportionHPOHP:0031397
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Severe T-cell immunodeficiencyHPOHP:0005352
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- Opportunistic infectionHPOHP:0031690
- Frequent (30% to 79% of cases)
Show the remaining 26
- PneumoniaHPOHP:0002090
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases)
- Recurrent infection of the gastrointestinal tractHPOHP:0004798
- Frequent (30% to 79% of cases)
- Severe infectionHPOHP:0032169
- Frequent (30% to 79% of cases)
- Severe viral infectionHPOHP:0031691
- Frequent (30% to 79% of cases)
- Atypical or prolonged hepatitisHPOHP:0200122
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Nezelof syndrome
- Also called
- Nezelof's syndromeT-lymphocyte deficiency