Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Synonyms: APLAID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | APLAID |
| fr | Syndrome auto-inflammatoire-dérèglement avec déficit immunitaire lié à PLCG2 | = en |
| de | Autoinflammation mit PLCG2-assoziiertem Antikörper-Mangel und Immundysregulation | aPLAID |
| es | Autoinflamación-deficiencia de anticuerpos asociada a PLCG2-desregulación inmunológica | = en |
| it | Sindrome autoinfiammatoria-disregolazione immunitaria-deficit anticorpale PLCG2-correlato | = en |
| nl | Auto-inflammatie - PLCG2-geassocieerde antilichaamdeficiëntie - immuundisregulatie | = en |
| pt | Auto-inflamação-deficiência de anticorpos PLCG2-associados-imunodesregulação | |
| pl | Autozapalenie - Niedobór przeciwciał związany z plCG2 - rozregulowanie odporności | AplAID |
| cs | Autoinflamace, PLCG2-asociovaný deficit protilátek a imunitní dysregulace | = en |
| uk | Аутозапалення-дефіцит антитіл, асоційований з PLCG2-імунна дисрегуляція | = en |
| zh | 自身炎症-PLCG2基因相关抗体缺陷-免疫失调 | = en |
| tr | Otoinflamasyon-PLCG2 -ilişkili antikor eksikliği-immün düzensizlik | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614878 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| MONDO | 0013944 | E | validated | |
| UMLS | C3553961 | 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:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:324933Mixed autoinflammatory and autoimmune 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 |
|---|---|---|---|---|---|---|---|---|
| PLCG2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9066 | ENSG00000197943 | 600220 | 16q24.1 | phospholipase C gamma 2 | 23000145[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23000145[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23000145[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/324530
- This record as JSON: /data/d/324530.json