Pelger-Huet-like anomaly and episodic fever with abdominal pain
An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
MONDO:0019751
autoinflammatory syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
Pelger-Huet-like anomaly and episodic fever with abdominal pain
exact
immunodeficiency 108 with autoinflammation
exact