Pelger-Huet-like anomaly and episodic fever with abdominal pain
Pelger-Huet-like anomaly and episodic fever with abdominal pain
Definition
An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
Also known as immunodeficiency 108 with autoinflammation, Pelger-Huet-like anomaly and episodic fever with abdominal pain — per MONDO