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

MONDO:0009842

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

Also known as: Pelger-Huet-like anomaly and episodic fever with abdominal pain, immunodeficiency 108 with autoinflammation

10 clinical trials for this condition and its sub-types, 0 tagged with Pelger-Huet-like anomaly and episodic fever with abdominal pain itself.

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↑ Hereditary disorder of connective tissue (1314) ↑ Autoinflammatory syndrome (208)
Including sub-types (10) Tagged with Pelger-Huet-like anomaly and episodic fever with abdominal pain (0)
Trials to join now! 7 Not yet recruiting 1 Completed 2
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  • New blood tests aim to unlock mysteries of rare inflammatory diseases

    Knowledge-focused Not yet recruiting

    This study aims to better understand rare autoinflammatory diseases by developing blood tests that measure inflammation markers. Researchers will analyze blood samples from 60 adults and children with these conditions. The goal is to identify specific inflammation pathways, which…

    Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused

    Last updated Jun 26, 2026 17:44 UTC

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