Pelger-Huet-like anomaly and episodic fever with abdominal pain

Pelger-Huet-like anomaly and episodic fever with abdominal pain is a rare autoinflammatory condition. It is characterized by problems in the immune system, especially involving the function of neutrophils, a type of white blood cell that helps fight infections. This condition is linked to a specific gene mutation, which affects the transcription factor C/EBPε. Because of this mutation, the affected cells do not work as they normally should, leading to inflammation and other related symptoms.

Information about symptoms is currently limited for this condition.

This condition is caused by a specific change in the DNA. A homozygous mutation (Arg219His) in the gene that makes the transcription factor C/EBPε leads to defective neutrophil function and autoinflammation. The known gene associated with this condition is CEBPE.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.