Information on CAIN
Basic details
Name: CEBPE-Autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | Acronym: CAIN
Alt. names: CEBPE neofunction | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | Immunodeficiency 108 with autoinflammation
Gene: CEBPE | MOI: Autosomal recessive | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.[Orphanet]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Abdominal pain |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Epistaxis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hyposegmentation of neutrophil nuclei |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Impaired neutrophil chemotaxis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Paronychia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent abscess formation |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent aphthous stomatitis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent fevers |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Early young adult onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Juvenile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.