ORPHA:300359
PLCG2-associated antibody deficiency and immune dysregulation
Synonyms: FACU · Familial atypical cold urticaria · Familial cold urticaria with common variable immunodeficiency · PLAID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLCG2-associated antibody deficiency and immune dysregulation | FACU · Familial atypical cold urticaria · Familial cold urticaria with common variable immunodeficiency · PLAID |
| fr | Dérèglement et déficit immunitaire lié à PLCG2 | Urticaire familiale au froid atypique · Urticaire familiale au froid avec déficit immunitaire commun variable · FACU · PLAID |
| de | PLCG2-associated antibody deficiency and immune dysregulation | Autoinflammatorisches Syndrom, atypisches kälteinduziertes, familiäre Form · FACU · Familial atypical cold urticaria · Familial cold urticaria with common variable immunodeficiency · Familiäre Kälte-Urtikaria mit allgemeinem variablem Immundefektsyndrom · Familiäre atypische Kälte-Urtikaria · PLAID |
| es | Deficiencia de anticuerpos asociada a PLCG2 y desregulación inmunológica | FACU · PLAID · Urticaria familiar por frío atípica · Urticaria familiar por frío con inmunodeficiencia común variable |
| it | Deficit di anticorpi correlato a PLCG2 e disregolazione immunitaria | Deficit degli anticorpi PLCG2-correlati e disregolazione immunitaria · FACU · Orticaria atipica familiare da freddo · Orticaria familiare da freddo con immunodeficienza comune variabile · PLAID |
| nl | PLCG2-geassocieerde antilichaamdeficiëntie en immuundisregulatie | FACU · Familiale atypische koude auto-inflammatoir syndroom · Familiale atypische koude-urticaria · Familiale atypische netelroos door koude · Familiale koude-urticaria met algemene variabele immuundeficiëntie · Familiale koudenetelroos met algemene variabele immuundeficiëntie · PLAID |
| pt | Deficiência de anticorpos PLCG2-associada e imunodesregulação | Urticária familiar ao frio atípica |
| pl | Niedobór przeciwciał i zaburzenia odporności związane z plCG2 | FACU · plAID · Rodzinna atypowa pokrzywka z zimna · Rodzinna pokrzywka z zimna z powszechnym zmiennym niedoborem odporności |
| cs | Familiární chladová kopřivka s běžnou variabilní imunodeficiencí | FACU · Nedostatek protilátek a imunitní dysregulace asociované s PLCG2 · PLAID · Familiární atypická chladová kopřivka |
| uk | PLCG2-асоційований дефіцит антитіл та імунна дисрегуляція | FACU · Сімейна атипова холодова кропивянка · Сімейна холодова кропивянка при загальному варіабельному імунодефіциті · PLAID |
| zh | PLCG2相关抗体缺陷与免疫失调 | 家族性冷型荨麻疹伴普通变异型免疫缺陷 |
| tr | PLCG2-ilişkili antikor eksikliği ve immün düzensizlik | FACU · PLAID · Ailesel atipik soğuk ürtiker · Yaygın değişken immün yetmezliği olan ailesel soğuk ürtiker |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614468 | E | validated | |
| ICD-10 | L50.2 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0013766 | E | validated | |
| UMLS | C4722480 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
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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 | 22236196[PMID]_23000145[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 22236196[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300359
- This record as JSON: /data/d/300359.json