{"orpha":438159,"name":"STAT3-related early-onset multisystem autoimmune disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438159/","orphanet_url":"https://www.orpha.net/en/disease/detail/438159","names":{"fr":{"name":"Maladie auto-immune multisystémique précoce associée à STAT3","definition":"Syndrome lymphoprolifératif rare d'origine génétique, caractérisé par des infections récurrentes à début précoce, une lymphadénopathie accompagnée d'une hépatosplénomégalie et de maladies auto-immunes variables, dont une anémie hémolytique, une thrombocytopénie, une neutropénie, une entéropathie, un diabète de type 1, un scléroderme, une arthrite, une dermatite atopique et une maladie pulmonaire inflammatoire. Les patients présentent généralement un retard de croissance staturo-pondérale. Parmi les caractéristiques immunologiques inconstantes figurent une diminution du nombre de lymphocytes T régulateurs, une hypogammaglobulinémie et une diminution du nombre de lymphocytes B à mémoire."},"de":{"name":"STAT3-assoziierte früh beginnende multisystemische Autoimmunkrankheit","definition":"Ein seltenes, genetisch bedingtes, lypmhoproliferatives Syndrom, das durch früh einsetzende wiederkehrende Infektionen, Lymphadenopathie mit Hepatosplenomegalie und variablen Autoimmunerkrankungen, einschließlich hämolytischer Anämie, Thrombozytopenie, Neutropenie, Enteropathie, Typ-I-Diabetes, Sklerodermie, Arthritis, atopische Dermatitis und entzündlichen Lungenerkrankungen gekennzeichnet ist. Die Patienten zeigen in der Regel Gedeihstörungen. Zu den variablen immunologischen Befunden gehören verminderte regulatorische T-Zellen, Hypogammaglobulinämie und eine Reduktion der B-Gedächtniszellen."},"es":{"name":"Enfermedad autoinmune multisistémica de inicio precoz asociada a STAT3","definition":"Es un síndrome linfoproliferativo genético y poco frecuente caracterizado por un inicio temprano de infecciones recurrentes, linfadenopatía con hepatoesplenomegalia y trastornos autoinmunes variables que incluyen anemia hemolítica, trombocitopenia, neutropenia, enteropatía, diabetes tipo I, esclerodermia, artritis, dermatitis atópica y enfermedad pulmonar inflamatoria. Frecuentemente los pacientes presentan fallo de medro. Los hallazgos inmunológicos variables incluyen una disminución de células T reguladoras y de células B de memoria e hipogammaglobulinemia."},"it":{"name":"Malattia autoimmune multisistemica ad esordio precoce correlata a STAT3","definition":"È una malattia linfoproliferativa genetica rara, caratterizzata da infezioni ricorrenti ad esordio precoce, linfoadenopatia con epatosplenomegalia e malattie autoimmuni variabili, che comprendono l'anemia emolitica, la trombocitopenia, la neutropenia, l'enteropatia, il diabete tipo 1, la sclerodermia, l'artrite, la dermatite atopica e la pneumopatia infiammatoria. Di solito i pazienti presentano ritardo della crescita. I test immunologici evidenziano una diminuzione delle cellule T regolatorie, ipogammaglobulinemia e riduzione dei linfociti B della memoria."},"nl":{"name":"STAT3-gerelateerde multisystemische auto-immuunziekte met vroege aanvang","definition":"Een zeldzaam, genetisch, lymfoproliferatief syndroom gekarakteriseerd door vroeg aanvangende, recurrente infecties, lymfadenopathie en hepatosplenomegalie en variabele auto-immuunziekten, waaronder hemolytische anemie, trombocytopenie, neutropenie, enteropathie, type I diabetes, sclerodermie, artritis, atopische dermatitis, en inflammatoire longziekte. Patiënten vertonen doorgaans groeiachterstand. Variabele immunologische bevindingen zijn onder meer verminderd aantal regulatorische T-cellen, hypogammaglobulinemie, en vermindering van het aantal B-geheugencellen."},"pt":{"name":"Doença autoimune multissitémica com início precoce STAT3-relacionada"},"pl":{"name":"Wieloustrojowa choroba autoimmunologiczna o wczesnym początku zależna od STAT3"},"cs":{"name":"STAT3-vázané autoimunitní multisystémové onemocnění s časným nástupem"},"uk":{"name":"STAT3-повязане раннє мультисистемне аутоімунне захворювання з раннім початком","definition":"A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells."},"zh":{"name":"STAT3相关性早发多系统自身免疫性疾病","definition":"一种罕见的遗传性淋巴增生综合征，其特征在于早发性反复感染，伴有肝脾肿大的淋巴结病和多种自身免疫性疾病，包括溶血性贫血，血小板减少症，中性粒细胞减少症，肠病，I型糖尿病，硬皮病，关节炎，特应性皮炎和炎性肺病。患者通常有发育停滞。可变的免疫学发现包括调节性T细胞减少，低血球蛋白血症和记忆B细胞减少。"},"tr":{"name":"STAT3-ilişkili erken başlangıçlı multisistem otoimmün hastalık"}},"xrefs":[{"source":"OMIM","code":"615952","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.22","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98375,"name":"Autoimmune hemolytic anemia","classifications":[194]},{"orpha":71203,"name":"Autoimmune thrombocytopenia","classifications":[194]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"STAT3","name":"signal transducer and activator of transcription 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25038750[PMID]","hgnc":"11364","ensembl":"ENSG00000168610","omim":"102582","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"26574998[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26574998[PMID]"}],"phenotypes":null}