Pelger-Huet-like anomaly and episodic fever with abdominal pain
MONDO:0009842Mondo
Findings
No curated finding names Pelger-Huet-like anomaly and episodic fever with abdominal pain yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
Definition from the Mondo Disease Ontology (MONDO:0009842), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Abdominal painHPOHP:0002027
- 3 of 3 reported patients
- EpistaxisHPOHP:0000421
- 3 of 3 reported patients
- Hyposegmentation of neutrophil nucleiHPOHP:0011447
- 3 of 3 reported patients
- Impaired neutrophil chemotaxisHPOHP:0040238
- 3 of 3 reported patients
- ParonychiaHPOHP:0001818
- 3 of 3 reported patients
- Recurrent abscess formationHPOHP:0002722
- 3 of 3 reported patients
- Recurrent aphthous stomatitisHPO
Where it sits
Other names
1 name
Resolves to: Pelger-Huet-like anomaly and episodic fever with abdominal pain
- Also called
- immunodeficiency 108 with autoinflammation