{"orpha":566067,"name":"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAIN"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566067/","orphanet_url":"https://www.orpha.net/en/disease/detail/566067","names":{"fr":{"name":"Syndrome de déficit immunitaire-autoinflammation-anomalie des neutrophiles associé à CEBPE","synonyms":["CAIN","Syndrome d'immunodéficience-autoinflammation-anomalie des neutrophiles associé à CEBPE"],"definition":"Syndrome auto-inflammatoire rare avec déficit immunitaire d'origine génétique caractérisé par une association d'auto-inflammation, d'immunodéficience et de dysfonction des neutrophiles, ainsi que par une légère diathèse hémorragique. Les patients présentent des crises récurrentes de douleurs abdominales, une forte fièvre et une inflammation systémique se produisant à quelques semaines d'intervalle et qui dure de quatre à cinq jours. Les crises peuvent s'accompagner de paronychie, d'abcès de la langue, d'abcès sous-mandibulaire et du muscle fessier ainsi que de granulomes intra-abdominaux, de pyoderma gangrenosum et d'ulcérations buccales. Des épisodes fréquents de paronychie purulente, d'infections superficielles de la peau et des muqueuses et d'infections purulentes des voies respiratoires supérieures ont également été décrits."},"de":{"name":"CEBPE-assoziierte Autoinflammation-Immundefekt-neutrophile Funktionsstörung-Syndrom","synonyms":["CAIN"],"definition":"Ein genetisch bedingtes autoinflammatorisches Syndrom, das durch eine Kombination von Autoinflammation, Immundefizienz und neutrophiler Dysfunktion sowie einer leichten Blutungsneigung gekennzeichnet ist. Die Patienten leiden unter wiederkehrenden Anfällen von Bauchschmerzen, hohem Fieber und systemischen Entzündungen, die vier bis fünf Tage andauern und alle paar Wochen auftreten. Die Anfälle können von Nagelbett-, Zungen-, Submandibular- und Glutealabszessen, intraabdominalen Granulomen, Pyoderma gangrenosum und Wangengeschwüren begleitet sein. Es wurde auch über häufige Episoden von eitriger Paronychie, oberflächlichen Haut- und Schleimhautinfektionen und eitrigen Infektionen der oberen Atemwege berichtet."},"es":{"name":"Síndrome autoinflamatorio-inmunodeficiencia-disfunción neutrofílica asociado a CEBPE","synonyms":["CAIN"],"definition":"Es un síndrome autoinflamatorio con inmunodeficiencia de origen genético poco frecuente caracterizado por una combinación de autoinflamación, inmunodeficiencia y disfunción neutrofílica, así como diátesis hemorrágica leve. Los pacientes se presentan con ataques recurrentes de dolor abdominal, fiebre alta e inflamación sistémica que duran de cuatro a cinco días, apareciendo cada pocas semanas. Los ataques pueden ir acompañados de abscesos en el lecho ungueal, la lengua, los glúteos y submandibulares, granulomas intra-abdominales, pioderma gangrenoso y úlceras bucales. También se han descrito episodios frecuentes de paroniquia purulenta, infecciones superficiales en la piel y las mucosas e infecciones purulentas del tracto respiratorio superior."},"it":{"name":"Sindrome autoinfiammazione-immunodeficienza-disfunzione dei neutrofili correlata a CEBPE","synonyms":["CAIN"],"definition":"Si tratta di una malattia autoinfiammatoria genetica rara, associata ad immunodeficienza, caratterizzata da autoinfiammazione, immunodeficienza, disfunzione dei neutrofili e diatesi emorragica lieve. I pazienti presentano episodi ricorrenti di dolore addominale, febbre elevata e infiammazione sistemica, che durano quattro-cinque giorni e si susseguono a distanza di poche settimane l'uno dall'altro. Gli episodi possono associarsi ad ascessi del letto ungueale, della lingua, sottomandibolari e dei glutei, granulomi intraddominali, pioderma gangrenoso e ulcere del cavo orale. I pazienti possono presentare anche episodi frequenti di paronichia purulenta, infezioni superficiali della cute e delle mucose, e infezioni purulente delle vie respiratorie superiori."},"nl":{"name":"CEBPE-geassocieerd auto-inflammatie - immuundeficiëntie - neutrofieldisfunctie-syndroom","synonyms":["CAIN"],"definition":"Een zeldzaam, genetisch auto-inflammatoir syndroom met immuundeficiëntie, gekarakteriseerd door een combinatie van auto-inflammatie, immuundeficiëntie, en disfunctie van neutrofielen, alsook milde bloedingsneiging. Patiënten vertonen recidiverende aanvallen van abdominale pijn, hoge koorts, en systemische inflammatie die vier tot vijf dagen duren en om de paar weken voorkomen. Aanvallen kunnen gepaard gaan met abcessen van nagelbed, tong, submandibulaire regio en bilstreek, intra-abdominale granulomen, pyoderma gangrenosum, en buccale ulceraties. Frequente episodes van purulente nagelriemontsteking, oppervlakkige infectie van huid en slijmvlies, en purulente infecties van bovenste luchtwegen werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome autoinflamatório CEBPE-associado-imunodeficiência-disfunção neutrofílica"},"pl":{"name":"Zespół dysfunkcji neutrofili, niedoboru odporności, zaburzeń autoinflamatoryjnych związany z CEBPE","synonyms":["CAIN"]},"cs":{"name":"Syndrom zahrnující autoinflamaci, imunodeficienci a neutrofilní dysfunkci spojenou s CEBPE","synonyms":["CAIN"]},"uk":{"name":"CEBPE-асоційований синдром аутозапалення-імунодефіциту-нейтрофільної дисфункції","synonyms":["CAIN"],"definition":"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."},"zh":{"name":"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","synonyms":["CAIN"]},"tr":{"name":"CEBPE-ilişkili otoinflamasyon-immün yetmezlik-nötrofil disfonksiyon sendromu","synonyms":["CAIN"]}},"xrefs":[{"source":"OMIM","code":"260570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568564","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":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]}],"children":[],"genes":[{"symbol":"CEBPE","name":"CCAAT enhancer binding protein epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"31201888[PMID]","hgnc":"1836","ensembl":"ENSG00000092067","omim":"600749","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"31201888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31201888[PMID]"}],"phenotypes":null}