{"orpha":277,"name":"T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADA deficiency","T-B-NK- SCID due to adenosine deaminase deficiency"],"definition":"Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-277/","orphanet_url":"https://www.orpha.net/en/disease/detail/277","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B-NK- par déficit en adénosine désaminase","synonyms":["DICS T-B-NK- par déficit en adénosine désaminase","Déficit en ADA","ICDS T-B-NK- par déficit en adénosine désaminase","Immunodéficience combinée sévère T-B-NK- par déficit en adénosine désaminase","SCID T-B-NK- par déficit en adénosine désaminase"],"definition":"Le déficit immunitaire combiné sévère (DICS) par déficit en adénosine désaminase (ADA) est une forme de DICS caractérisée par une lymphopénie profonde et un taux d'immunoglobuline de tous les isotypes très bas provoquant des infections opportunistes graves et récurrentes."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B-NK-, durch Adenosin-Desaminase-Mangel","synonyms":["ADA-Mangel","T-B-NK- SCID durch Adenosin-Desaminase-Defizienz"],"definition":"Die Schwere kombinierte Immundefizienz (SCID; s. dort) durch Adenosin-Desaminase (ADA)-Mangel ist eine SCID-Form mit profunder Lymphopenie und sehr niedrigem Immunglobulin-Spiegel aller Isotypen mit der Folge schwerer und rezidivierender opportunistischer Infektionen."},"es":{"name":"Inmunodeficiencia combinada grave T-B-NK- por deficiencia de adenosina desaminasa","synonyms":["Deficiencia ADA","IDCG T-B-NK- por deficiencia de adenosina desaminasa","SCID T-B-NK- por deficiencia de adenosina desaminasa"],"definition":"La inmunodeficiencia combinada grave (IDCG, ver término) por déficit de adenosina desaminasa (ADA) es una forma de IDCG caracterizada por una linfopenia profunda y niveles muy bajos de todos los isotipos de inmunoglobulinas, que dan como resultado la aparición de infecciones oportunistas graves y recurrentes."},"it":{"name":"Immunodeficienza combinata grave T-B-NK- da deficit di adenosina deaminasi","synonyms":["Deficit di ADA","SCID T-B-NK- da deficit di adenosina deaminasi"],"definition":"L'immunodeficienza combinata grave (SCID; si veda questo termine) da deficit di adenosina deaminasi (ADA) è una forma di SCID caratterizzata da linfopenia marcata e livelli estremamenti bassi di tutti gli isotipi delle immunoglobuline, che causano gravi infezioni opportunistiche ricorrenti."},"nl":{"name":"T-B-NK- ernstige gecombineerde immuundeficiëntie door deficiëntie van adenosinedeaminase","synonyms":["ADA-deficiëntie","T-B-NK- SCID door deficiëntie van adenosinedeaminase"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID; zie deze term) als gevolg van adenosinedeaminasedeficiëntie (ADA) is een vorm van SCID gekenmerkt door ernstige lymfopenie en zeer lage immunoglobulineniveaus van alle isotypes, die ernstige en terugkerende opportunistische infecties veroorzaken."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de adenosina desaminase","synonyms":["Deficiência de ADA","Deficiência de adenosina desaminase"]},"pl":{"name":"Ciężki złożony Niedobór odporności z powodu niedoboru deaminazy adenozyny","synonyms":["Niedobór ADA","SCID z powodu niedoboru deaminazy adenozyny"]},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem adenozin deaminázy","synonyms":["Deficit ADA","SCID způsobená deficitem adenozin deaminázy"]},"uk":{"name":"Тяжкий комбінований імунодефіцит внаслідок дефіциту аденозиндезамінази","synonyms":["Дефіцит АДА","SCID через дефіцит аденозиндезамінази"],"definition":"Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections."},"zh":{"name":"腺苷脱氨酶缺乏所致重症联合免疫缺陷病","synonyms":["腺苷脱氨酶缺乏所致重症联合免疫缺陷病"]},"tr":{"name":"Adenozin deaminaz eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["ADA eksikliği","Adenozin deaminaz eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"102700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2134438414"},{"source":"MONDO","code":"0007064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C531816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0392607","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":720294,"name":"T-B-NK- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"ADA","name":"adenosine deaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"186","ensembl":"ENSG00000196839","omim":"608958","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"20301656[PMID]_ ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"20301656[PMID]","terms":[{"hpo":"HP:0005368","label":"Abnormality of humoral immunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002849","label":"Absence of lymph node germinal center","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030813","label":"Absent tonsils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005354","label":"Lack of T cell function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005390","label":"Recurrent opportunistic infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null}]}}