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familial cold autoinflammatory syndrome 3 (FACU) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Cold urticaria, Erythema, and Pruritus; and common findings: Recurrent sinopulmonary infections, Asthma, Antinuclear antibody positivity, and Allergic rhinitis and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Vitiligo, Cold urticaria, Erythema
Blood and immune system	1	Recurrent sinopulmonary infections
Lungs and breathing	1	Asthma
Lab test results	1	Antinuclear antibody positivity
Ears	1	Recurrent otitis media
Hormones	1	Hashimoto thyroiditis

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial cold autoinflammatory syndrome 3.

55 publications have been identified in PubMed for familial cold autoinflammatory syndrome 3. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (20%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Research summaries	14	25%
Patient case studies	11	20%
Laboratory research	10	18%
Disease patterns and progression	9	16%
Testing and diagnosis research	4	7%
Clinical study results	3	5%
New treatment approaches	3	5%
Other research	1	2%

Recent Publications

Chu H (2026). [PMID: 41086530](https://pubmed.ncbi.nlm.nih.gov/41086530/). *Eur J Med Chem*. [Gene Therapy / Novel Therapeutics]
Toledano-Pinedo M (2026). [PMID: 41750257](https://pubmed.ncbi.nlm.nih.gov/41750257/). *Biomolecules*. [Review / Meta-Analysis]
Kato C (2026). [PMID: 41263512](https://pubmed.ncbi.nlm.nih.gov/41263512/). *Mod Rheumatol*. [Clinical Trial Publication]
Bouramtane A (2026). [PMID: 41261519](https://pubmed.ncbi.nlm.nih.gov/41261519/). *Int J Immunogenet*. [Review / Meta-Analysis]
Snouwaert JN (2026). [PMID: 41797712](https://pubmed.ncbi.nlm.nih.gov/41797712/). *JCI Insight*. [Basic Science / Preclinical]
Gao FH (2026). [PMID: 41582757](https://pubmed.ncbi.nlm.nih.gov/41582757/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Park YH (2026). [PMID: 41851524](https://pubmed.ncbi.nlm.nih.gov/41851524/). *Nat Immunol*. [Gene Therapy / Novel Therapeutics]
Koller BH (2026). [PMID: 41723527](https://pubmed.ncbi.nlm.nih.gov/41723527/). *J Neuroinflammation*. [Basic Science / Preclinical]
Bonet N (2025). [PMID: 41026232](https://pubmed.ncbi.nlm.nih.gov/41026232/). *J Clin Immunol*. [Epidemiology / Natural History]
Murillo-Cuesta S (2025). [PMID: 41046290](https://pubmed.ncbi.nlm.nih.gov/41046290/). *J Neuroinflammation*. [Review / Meta-Analysis]

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familial cold autoinflammatory syndrome 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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External Resources

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familial cold autoinflammatory syndrome 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team