{"orpha":169105,"name":"Thymoma-hypogammaglobulinemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Good syndrome"],"definition":"Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169105/","orphanet_url":"https://www.orpha.net/en/disease/detail/169105","names":{"fr":{"name":"Syndrome de thymome-hypogammaglobulinémie","synonyms":["Syndrome de Good"],"definition":"Syndrome de déficit immunitaire acquis très rare caractérisé par l'association d'un thymome et d'un déficit immunitaire combiné en lymphocytes T et B apparaissant à l'âge adulte, avec une susceptibilité accrue aux infections."},"de":{"name":"Thymom-Hypogammaglobulinämie-Syndrom","synonyms":["Thymom-Immundefekt-Syndrom","Good-Syndrom"]},"es":{"name":"Síndrome de timoma-hipogammaglobulinemia","synonyms":["Síndrome de Good"],"definition":"Es un síndrome de inmunodeficiencia adquirida muy poco frecuente caracterizado por la asociación de timoma con inmunodeficiencia combinada de células B y T de inicio en el adulto con susceptibilidad incrementada a las infecciones."},"it":{"name":"Sindrome Ipogammaglobulinemia-Timoma","synonyms":["Sindrome di Good"],"definition":"La sindrome di Good, nota anche come timoma-immunodeficienza, è un'immunodeficienza acquisita molto rara, è caratterizzata dall'associazione tra timoma e immunodeficienza dei linfociti B e T, ad esordio nell'età adulta, con un aumento della suscettibilità alle infezioni."},"nl":{"name":"Thymoom - hypogammaglobulinemie-syndroom","synonyms":["Syndroom van Good"],"definition":"Syndroom van Good, ook gekend als thymoom - immuundeficiëntie, een zeer zeldzaam, verworven immuundeficiëntiesyndroom dat gekarakteriseerd wordt door de associatie van thymoom en gecombineerde B-cel- en T-cel-immuundeficiëntie met aanvang in de volwassenheid en met verhoogde susceptibiliteit voor infecties."},"pt":{"name":"Síndrome Good"},"pl":{"name":"Zespół Gooda","synonyms":["Grasiczak - Niedobór odporności"]},"cs":{"name":"Goodův syndrom","synonyms":["Hypogamaglobulinemie spojená s thymomem"]},"uk":{"name":"Синдром Гуда","synonyms":["Тимоматозно-імунодефіцитний синдром"],"definition":"Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections."},"zh":{"name":"Good 综合征","synonyms":["胸腺瘤-免疫缺陷综合征"],"definition":"Good综合征，又称胸腺瘤免疫缺陷病，是一种非常罕见的获得性免疫缺陷综合征，其主要临床表现为胸腺瘤和成人起病的B淋巴细胞、T淋巴细胞联合免疫缺陷，易受病原体感染。"},"tr":{"name":"Good sendromu","synonyms":["Timoma-immün yetmezlik sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B40.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"812332735"},{"source":"MONDO","code":"0015696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221027","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"37729389[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":241.0,"area":"Worldwide","status":"Validated","source":"20149753[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001881","label":"Abnormal leukocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}