{"orpha":324530,"name":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APLAID"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324530/","orphanet_url":"https://www.orpha.net/en/disease/detail/324530","names":{"fr":{"name":"Syndrome auto-inflammatoire-dérèglement avec déficit immunitaire lié à PLCG2","synonyms":["APLAID"],"definition":"Syndrome mixte auto-inflammatoire et auto-immun rare caractérisé par des lésions cutanées récurrentes à type de vésicules avec infiltrat neutrophilique, une arthralgie, une inflammation oculaire, une maladie inflammatoire de l'intestin, une absence d'auto-anticorps et un léger déficit immunitaire se manifestant par des infections récurrentes des sinus et des poumons et un déficit en anticorps circulants. Le phénotype inflammatoire n'est pas induit par les températures froides."},"de":{"name":"Autoinflammation mit PLCG2-assoziiertem Antikörper-Mangel und Immundysregulation","synonyms":["aPLAID"]},"es":{"name":"Autoinflamación-deficiencia de anticuerpos asociada a PLCG2-desregulación inmunológica","synonyms":["APLAID"],"definition":"Es un trastorno sindrómico autoinflamatorio y autoinmune mixto, que se caracteriza por lesiones cutáneas ampollosas neutrofílicas y recurrentes, artralgia, inflamación ocular, enfermedad inflamatoria intestinal, ausencia de autoanticuerpos, además de inmunodeficiencia leve que se manifiesta con infecciones sinopulmonares recurrentes y deficiencia de anticuerpos circulantes. El fenotipo inflamatorio no es provocado por bajas temperaturas."},"it":{"name":"Sindrome autoinfiammatoria-disregolazione immunitaria-deficit anticorpale PLCG2-correlato","synonyms":["APLAID"],"definition":"L'autoinfiammazione associata a deficit di anticorpi correlato a PLCG2 e disregolazione immunitaria è una sindrome mista autoinfiammatoria ed autoimmune, che si manifesta con lesioni cutanee ricorrenti caratterizzate da vescicole neutrofile, artralgia, infiammazione oculare, malattia infiammatoria intestinale, assenza di autoanticorpi, e lieve immunodeficienza, associata a infezioni sinopolmonari ricorrenti e deficit di anticorpi circolanti. L'infiammazione non viene scatenata dalle basse temperature."},"nl":{"name":"Auto-inflammatie - PLCG2-geassocieerde antilichaamdeficiëntie - immuundisregulatie","synonyms":["APLAID"],"definition":"Een zeldzaam, gemengd auto-inflammatoir en auto-immuun syndroom, gekarakteriseerd door recurrente neutrofiele blaarvormige huidletsels, artralgie, oogontsteking, inflammatoire darmziekte, afwezigheid van auto-antilichamen, en milde immuundeficiëntie die zich manifesteert met terugkerende sinopulmonale infecties en deficiëntie van circulerende antilichamen. Het inflammatoire fenotype wordt niet uitgelokt door koude temperaturen."},"pt":{"name":"Auto-inflamação-deficiência de anticorpos PLCG2-associados-imunodesregulação"},"pl":{"name":"Autozapalenie - Niedobór przeciwciał związany z plCG2 - rozregulowanie odporności","synonyms":["AplAID"]},"cs":{"name":"Autoinflamace, PLCG2-asociovaný deficit protilátek a imunitní dysregulace","synonyms":["APLAID"]},"uk":{"name":"Аутозапалення-дефіцит антитіл, асоційований з PLCG2-імунна дисрегуляція","synonyms":["APLAID"],"definition":"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."},"zh":{"name":"自身炎症-PLCG2基因相关抗体缺陷-免疫失调","synonyms":["APLAID"],"definition":"一种罕见的混合型自身炎症和自身免疫综合征疾病，其特征为反复出现的中性粒细胞大疱性皮肤损伤、关节痛、眼部炎症、炎症性肠病、缺乏自身抗体和轻度免疫缺陷，表现为反复出现的窦肺感染和循环抗体缺乏。炎症表型不是由低温引起的。"},"tr":{"name":"Otoinflamasyon-PLCG2 -ilişkili antikor eksikliği-immün düzensizlik","synonyms":["APLAID"]}},"xrefs":[{"source":"OMIM","code":"614878","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013944","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553961","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]},{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[156,196,231]}],"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":"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":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23000145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23000145[PMID]"}],"phenotypes":null}