CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Synonyms: CAIN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | CAIN |
| fr | Syndrome de déficit immunitaire-autoinflammation-anomalie des neutrophiles associé à CEBPE | CAIN · Syndrome d'immunodéficience-autoinflammation-anomalie des neutrophiles associé à CEBPE |
| de | CEBPE-assoziierte Autoinflammation-Immundefekt-neutrophile Funktionsstörung-Syndrom | = en |
| es | Síndrome autoinflamatorio-inmunodeficiencia-disfunción neutrofílica asociado a CEBPE | = en |
| it | Sindrome autoinfiammazione-immunodeficienza-disfunzione dei neutrofili correlata a CEBPE | = en |
| nl | CEBPE-geassocieerd auto-inflammatie - immuundeficiëntie - neutrofieldisfunctie-syndroom | = en |
| pt | Síndrome autoinflamatório CEBPE-associado-imunodeficiência-disfunção neutrofílica | |
| pl | Zespół dysfunkcji neutrofili, niedoboru odporności, zaburzeń autoinflamatoryjnych związany z CEBPE | = en |
| cs | Syndrom zahrnující autoinflamaci, imunodeficienci a neutrofilní dysfunkci spojenou s CEBPE | = en |
| uk | CEBPE-асоційований синдром аутозапалення-імунодефіциту-нейтрофільної дисфункції | = en |
| zh | CEBPE基因相关的自身炎症-免疫缺陷-中性粒细胞功能障碍综合征 | = en |
| tr | CEBPE-ilişkili otoinflamasyon-immün yetmezlik-nötrofil disfonksiyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260570 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.Y | NTBT | attributed | validated |
| MONDO | 0035437 | E | validated | |
| UMLS | C5568564 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEBPE | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1836 | ENSG00000092067 | 600749 | 14q11.2 | CCAAT enhancer binding protein epsilon | 31201888[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 31201888[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31201888[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566067
- This record as JSON: /data/d/566067.json