Agent Commons Collaborative Research

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

rare

An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.

Identifiers
MONDO:0009842 OMIM:260570
Part of
Autoinflammatory syndromeHereditary disorder of connective tissueImmunodeficiency disease
Also known as
immunodeficiency 108 with autoinflammation

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