{"orpha":300359,"name":"PLCG2-associated antibody deficiency and immune dysregulation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FACU","Familial atypical cold urticaria","Familial cold urticaria with common variable immunodeficiency","PLAID"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300359/","orphanet_url":"https://www.orpha.net/en/disease/detail/300359","names":{"fr":{"name":"Dérèglement et déficit immunitaire lié à PLCG2","synonyms":["Urticaire familiale au froid atypique","Urticaire familiale au froid avec déficit immunitaire commun variable","FACU","PLAID"],"definition":"Déficit immunitaire rare et héréditaire avec atteinte cutanée caractérisé par l'apparition précoce d'une urticaire au froid survenant à la suite d'une exposition généralisée à l'air froid ou à un refroidissement par évaporation, mais pas à la suite d'un contact avec des objets froids. D'autres anomalies immunologiques sont souvent présentes, à savoir déficit en anticorps, infections récurrentes, maladies auto-immunes et maladies allergiques symptomatiques."},"de":{"name":"PLCG2-associated antibody deficiency and immune dysregulation","synonyms":["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":{"name":"Deficiencia de anticuerpos asociada a PLCG2 y desregulación inmunológica","synonyms":["FACU","PLAID","Urticaria familiar por frío atípica","Urticaria familiar por frío con inmunodeficiencia común variable"],"definition":"La deficiencia de anticuerpos asociada a PLCG2 y desregulación inmunitaria es una inmunodeficiencia, hereditaria y poco frecuente, con afectación cutánea. Está caracterizada por urticaria por frío de inicio temprano por exposición generalizada al aire frío o enfriamiento por evaporación y no por el contacto con objetos fríos. Con frecuencia, hay anomalías inmunológicas adicionales presentes: deficiencia de anticuerpos, infecciones recurrentes, enfermedad autoinmune y enfermedad alérgica sintomática."},"it":{"name":"Deficit di anticorpi correlato a PLCG2 e disregolazione immunitaria","synonyms":["Deficit degli anticorpi PLCG2-correlati e disregolazione immunitaria","FACU","Orticaria atipica familiare da freddo","Orticaria familiare da freddo con immunodeficienza comune variabile","PLAID"],"definition":"Il deficit anticorpale correlato a PLCG2 associato alla disregolazione immunitaria è un'immunodeficienza ereditaria rara con interessamento cutaneo, caratterizzata da orticaria da freddo ad esordio precoce, secondaria all'esposizione sistemica all'aria fredda o al raffreddamento per evaporazione, ma non al contatto con oggetti freddi. Spesso i pazienti presentano anche altre anomalie immunologiche, come difetti anticorpali, infezioni ricorrenti, malattie autoimmuni e malattie allergiche sintomatiche."},"nl":{"name":"PLCG2-geassocieerde antilichaamdeficiëntie en immuundisregulatie","synonyms":["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"],"definition":"PLCG2-geassocieerde antilichaamdeficiëntie en immuundisregulatie is een zeldzame, erfelijke immuundeficiëntie met betrokkenheid van de huid, en wordt gekarakteriseerd door vroeg aanvangende koude urticaria na gegeneraliseerde blootstelling aan koude lucht of evaporatieve koeling en niet na contact met koude voorwerpen. Bijkomende immunologische afwijkingen zijn vaak aanwezig, zoals antilichaamdeficiëntie, recurrente infectie, auto-immuunziekte en symptomatische allergische ziekte."},"pt":{"name":"Deficiência de anticorpos PLCG2-associada e imunodesregulação","synonyms":["Urticária familiar ao frio atípica"]},"pl":{"name":"Niedobór przeciwciał i zaburzenia odporności związane z plCG2","synonyms":["FACU","plAID","Rodzinna atypowa pokrzywka z zimna","Rodzinna pokrzywka z zimna z powszechnym zmiennym niedoborem odporności"],"definition":"*Niedobór przeciwciał i zaburzenia odporności związane z PLCG2 jest rzadkim, dziedzicznym niedoborem odporności z zajęciem skóry, który charakteryzuje się pokrzywką o wczesnym początku, związaną z ekspozycją na niską temperaturę otoczenia lub z ochłodzeniem wskutek intensywnego parowania bez kontaktu z zimnymi przedmiotami. Często występują dodatkowe nieprawidłowości immunologiczne - niedobór przeciwciał, nawracające infekcje, choroby autoimmunologiczne i objawowa alergia."},"cs":{"name":"Familiární chladová kopřivka s běžnou variabilní imunodeficiencí","synonyms":["FACU","Nedostatek protilátek a imunitní dysregulace asociované s PLCG2","PLAID","Familiární atypická chladová kopřivka"]},"uk":{"name":"PLCG2-асоційований дефіцит антитіл та імунна дисрегуляція","synonyms":["FACU","Сімейна атипова холодова кропивянка","Сімейна холодова кропивянка при загальному варіабельному імунодефіциті","PLAID"],"definition":"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."},"zh":{"name":"PLCG2相关抗体缺陷与免疫失调","synonyms":["家族性冷型荨麻疹伴普通变异型免疫缺陷"],"definition":"PLCG2基因相关抗体缺陷和免疫失调是一种罕见的遗传性免疫缺乏累及皮肤，其特征是全身暴露于冷空气或蒸发冷却后，而不是接触寒冷物体后，出现早发性冷性荨麻疹。其他免疫异常表现为抗体缺乏，反复感染，自身免疫性疾病和症状性过敏性疾病。"},"tr":{"name":"PLCG2-ilişkili antikor eksikliği ve immün düzensizlik","synonyms":["FACU","PLAID","Ailesel atipik soğuk ürtiker","Yaygın değişken immün yetmezliği olan ailesel soğuk ürtiker"]}},"xrefs":[{"source":"OMIM","code":"614468","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L50.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4722480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[156,196,231]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"PLCG2","name":"phospholipase C gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22236196[PMID]_23000145[PMID]","hgnc":"9066","ensembl":"ENSG00000197943","omim":"600220","loci":["16q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22236196[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}