periodic fever-infantile enterocolitis-autoinflammatory syndrome
MONDO:0014472Mondo
Findings
No curated finding names periodic fever-infantile enterocolitis-autoinflammatory syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient · Infantile onset
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient · Childhood onset
- Increased circulating ferritin concentrationHPOHP:0003281
- 4 of 4 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- 1 of 1 reported patient · Childhood onset
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
- UrticariaHPOHP:0001025
- 1 of 1 reported patient
- Abnormal natural killer cell physiologyHPOHP:0012177
- 2 of 3 reported patients
Show the remaining 15
- HypoalbuminemiaHPOHP:0003073
- 2 of 3 reported patients
- Reduced total natural killer cell countHPOHP:0040218
- 2 of 3 reported patients
- Secretory diarrheaHPOHP:0005208
- 2 of 3 reported patients · Neonatal onset
- Short statureHPOHP:0004322
- 2 of 3 reported patients
- ArthralgiaHPOHP:0002829
- 1 of 3 reported patients
- Diffuse alveolar hemorrhageHPOHP:0025420
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NLRC4HGNC:16412
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: periodic fever-infantile enterocolitis-autoinflammatory syndrome
- Also called
- Autoinflammation with Infantile EnterocolitisNLRC4-related autoinflammatory syndrome with macrophage activation syndromeNLRC4-related autoinflammatory syndrome with MASNLRC4-related infantile enterocolitis-autoinflammatory syndromeNLRC4-related macrophage activation syndromeNLRC4-related MAS