{"orpha":444463,"name":"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II","Evans syndrome associated with primary immunodeficiency","TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease","TRIANGLE disease"],"definition":"A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444463/","orphanet_url":"https://www.orpha.net/en/disease/detail/444463","names":{"fr":{"name":"Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-déficit immunitaire primaire par déficit en TPP2","synonyms":["Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-déficit immunitaire primaire par déficit en tripeptidyl-peptidase II","Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-immunodéficience primaire par décit en TPP2","Maladie TRIANGLE","Syndrome d'Evans associé à une immunodéficience primaire"],"definition":"Maladie immunologique rare d'origine génétique apparaissant pendant la petite enfance ou l'enfance, caractérisée par une immunodéficience associée aux infections virales, bactériennes et fongiques récurrentes, une maladie auto-immune sévère se manifestant principalement par la destruction par des anticorps de globules rouges, plaquettes et neutrophiles, ainsi qu'un retard de développement léger à modéré. Les analyses biologiques font apparaître une diminution des cellules T, B et NK en circulation et une hypergammaglobulinémie."},"de":{"name":"Syndrom der autoimmunen hämolytischen Anämie mit autoimmuner Thrombozytopenie und primärem Immundefekt","synonyms":["Autoimmunhämolytische Anämie-Autoimmunthrombozytopenie-primärer Immundefekt-Syndrom durch TPP2-Mangel","Evans-Syndrom mit assoziiertem primären Immundefekt","TPPII-Defizienz","TPPII-assoziierter Immundefekt, Autoimmunität und neurologische Entwicklungsstörungen mit gestörter Glykolyse und lysosomaler Expansion","TRIANGLE-Krankheit","Tripeptidyl-Peptidase II-Mangel"],"definition":"Eine seltene genetisch bedingte Immunstörung, die durch einen kombinierten Immundefekt mit rezidivierenden viralen, bakteriellen und Pilzinfektionen gekennzeichnet ist und im Säuglings- oder Kindesalter beginnt. Weitere Symptome sind eine schwere Autoimmunität, die sich vor allem in einer antikörpervermittelten Zerstörung von roten Blutkörperchen, Blutplättchen und neutrophilen Granulozyten äußert, sowie eine leichte bis mäßige Entwicklungsverzögerung. Zu den Laborbefunden gehören eine Verminderung der zirkulierenden T-Zellen, B-Zellen und natürlichen Killerzellen sowie eine Hypergammaglobulinämie."},"es":{"name":"Síndrome de anemia hemolítica autoinmune-trombocitopenia autoinmune-inmunodeficiencia primaria por deficiencia de TPP2","synonyms":["Enfermedad TRIANGLE","Inmunodeficiencia asociada a TPPII, autoinmunidad, y retraso del neurodesarrollo con alteración de la expansión lisosomal y de la glucólisis","Síndrome de Evans asociado a inmunodeficiencia primaria","Síndrome de anemia hemolítica autoinmune-trombocitopenia autoinmune-inmunodeficiencia primaria por deficiencia de tripeptidil-peptidasa II"],"definition":"Es una enfermedad inmunitaria de base genética y poco frecuente caracterizada por la aparición en la lactancia o en la infancia de inmunodeficiencia combinada con infecciones víricas, bacterianas y fúngicas recurrentes, autoinmunidad grave que se manifiesta principalmente como destrucción de glóbulos rojos, plaquetas y neutrófilos mediada por anticuerpos, y retraso del desarrollo psicomotor de leve a moderado. Los hallazgos de laboratorio incluyen una disminución de las células T, B y asesinas naturales circulantes e hipergammaglobulinemia."},"it":{"name":"Sindrome anemia emolitica autoimmune-trombocitopenia autoimmune-immunodeficienza primitiva correlata a TPP2","synonyms":["Anemia emolitica autoimmune e trombocitopenia autoimmune con immunodeficienza primitiva","Immunodeficienza TPPII-correlata, autoimmunità, e ritardo del neurosviluppo con difetto della glicolisi ed espansione lisosomiale","Malattia TRIANGLE","Sindrome anemia emolitica autoimmune-trombocitopenia autoimmune-immunodeficienza primitiva correlata alla tripeptidil-peptidasi II","Sindrome di Evans associata a immunodeficienza primitiva"],"definition":"Si tratta di una malattia immunitaria genetica rara, caratterizzata da immunodeficienza combinata ad esordio nella prima infanzia o nell'infanzia, associata ad infezioni virali, batteriche e micotiche ricorrenti, autoimmunità grave (che si manifesta soprattutto con la distruzione dei globuli rossi, delle piastrine e dei neutrofili mediata dagli anticorpi) e ritardo dello sviluppo lieve-moderato. Gli esami di laboratorio mostrano una riduzione delle cellule T, B e natural killer nel circolo e ipergammaglobulinemia."},"nl":{"name":"Auto-immune hemolytische anemie - auto-immune trombocytopenie - primaire immuundeficiëntie-syndroom door TPP2-deficiëntie","synonyms":["Auto-immune hemolytische anemie - auto-immune trombocytopenie - primaire immuundeficiëntie-syndroom door deficiëntie van tripeptidyl-peptidase II","Syndroom van Evans geassocieerd met primaire immuundeficiëntie","TPPII-gerelateerde immuundeficiëntie, auto-immuniteit en neurologische ontwikkelingsachterstand met verstoorde glycolyse en lysosomale expansie","TRIANGLE-ziekte"],"definition":"Een zeldzame, genetische immuunziekte, gekarakteriseerd door aanvang in de zuigelingentijd of kindertijd van gecombineerde immuundeficiëntie met recidiverende virale, bacteriële, en fungale infecties, ernstige auto-immuniteit die zich voornamelijk manifesteert als door antilichamen gemedieerde destructie van rode bloedcellen, trombocyten, en neutrofielen, en milde tot matige ontwikkelingsachterstand. Laboratoriumbevindingen zijn onder meer verminderd aantal circulerende T-, B-, en 'natural killer'-cellen, en hypergammaglobulinemie."},"pt":{"name":"Síndrome de anemia hemolítica autoimune-trombocitopenia autoimune-imunodeficiência primária por deficiência TPP2","synonyms":["Doença TRIANGLE","Imunodeficiência, autoimunidade e perturbação do neurodesenvolvimento TPPII-relacionada com anomalia da glicólise e doença lisossomal de expansão","Síndrome Evans associado a imunodeficiência primária","Síndrome de anemia hemolítica autoimune-trombocitopenia autoimune-imunodeficiência primária por tripeptidil-peptidase II"]},"pl":{"name":"Zespół Evansa związany z pierwotnym niedoborem odporności","synonyms":["Autoimmunologiczna niedokrwistość hemolityczna i małopłytkowość autoimmunologiczna z pierwotnym niedoborem odporności","Choroba TRIANGLE","Niedobór odporności zależny od TPPII, autoagresja, opóźnienie rozwoju nerwowego z upośledzeniem glikolizy i ekspansą lyzosomów","Zespół autoimmunologicznej niedokrwistości hemolitycznej, małopłytkowości autoimmunologicznej, i pierwotnego niedoboru odporności spowodowany niedoborem TPP2"]},"cs":{"name":"Syndrom zahrnující autoimunitní hemolytickou anemii, trombocytopenii a primární imunodeficit","synonyms":["Syndrom zahrnující autoimunitní hemolytickou anémii, autoimunitní trombocytopenii a primární imunodeficienci","Deficit TPPII","Deficit tripeptidyl-peptidázy II","Onemocnění zahrnující TPPII-vázanou imunodeficienci, autoimunitu a opoždění nervového vývoje s poruchou glykolýzy a lysozomální expanzí","TRIANGLE onemocnění"]},"uk":{"name":"Синдром аутоімунної гемолітичної анемії-аутоімунної тромбоцитопенії-первинного імунодефіциту внаслідок дефіциту TPP2","synonyms":["Синдром аутоімунної гемолітичної анемії - аутоімунної тромбоцитопенії - первинного імунодефіциту, зумовлений трипептидилпептидазою II","Синдром Еванса, повязаний з первинним імунодефіцитом","Імунодефіцит, повязаний з TPPII, аутоімунне захворювання та затримка нервового розвитку з порушенням гліколізу та хворобою лізосомальної експансії","Хвороба TRIANGLE"],"definition":"A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia."},"zh":{"name":"自身免疫性溶血性贫血-自身免疫性血小板减少原发性免疫缺陷综合征","synonyms":["TRIANGLE疾病"]},"tr":{"name":"Otoimmün hemolitik anemi-otoimmün trombositopeni-primer immün yetmezlik sendromu","synonyms":["Tripeptidil-peptidaz II eksikliği","primer immün yetmezlik ile seyreden Evans sendromu","TPPII-ilişkili immün yetmezlik, otoimmünite ve bozulmuş glikoliz ve lizozomal genişleme hastalığı ile seyreden nörogelişim geriliği","TPPII eksikliği","TRIANGLE hastalığı"]}},"xrefs":[{"source":"OMIM","code":"619220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543159","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"TPP2","name":"tripeptidyl peptidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25414442[PMID]","hgnc":"12016","ensembl":"ENSG00000134900","omim":"190470","loci":["13q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25414442[PMID]_25525876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25414442[PMID]_25525876[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-25","source":"25414442[PMID]_25525876[PMID]_25414442[PMID]","terms":[{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}