{"orpha":911,"name":"Combined immunodeficiency due to ZAP70 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Zeta-associated-protein 70 deficiency"],"definition":"A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-911/","orphanet_url":"https://www.orpha.net/en/disease/detail/911","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en ZAP70","synonyms":["Déficit en protéine kinase associée à la chaîne zêta"],"definition":"Un trouble génétique très rare de déficit immunitaire combiné sévère, caractérisé par une lymphocytose, un taux réduit de lymphocytes T CD8+ périphériques, et un taux normal de lymphocytes T CD4+ circulants, conduisant à une dysfonction immune."},"de":{"name":"Immundefekt, kombinierter, durch ZAP70-Mangel","synonyms":["ZAP-70-Mangel","Zetakette-assoziierte Proteinkinase 70-Mangel"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de ZAP70","synonyms":["Deficiencia de proteína 70 asociada a zeta"],"definition":"Es un trastorno genético de inmunodeficiencia combinada, grave y muy poco frecuente, caracterizado por linfocitosis, disminución de células T CD8+ periféricas y presencia de células T CD4+ circulantes normales que deriva en disfunción inmunológica."},"it":{"name":"Immunodeficienza combinata da deficit di ZAP70","synonyms":["Deficit della proteina associata alla catena zeta-70"],"definition":"L'immunodeficienza combinata da deficit di ZAP70 è un'immunodeficienza combinata molto rara e grave, di origine genetica, caratterizzata da linfocitosi, diminuzione delle cellule T CD8+ periferiche e dalla presenza di cellule T CD4+ circolanti normali, che esitano nella disfunzione immunitaria."},"nl":{"name":"Gecombineerde immuundeficiëntie door ZAP70-deficiëntie","synonyms":["Zèta-geassocieerd proteïnekinase 70-deficiëntie"],"definition":"Een zeer zeldzame, ernstige, genetische, gecombineerde immuundeficiëntie gekarakteriseerd door lymfocytose, verminderd aantal perifere CD8+ T-cellen, en aanwezigheid van normale circulerende CD4+ T-cellen, met disfunctie van het immuunsysteem tot gevolg."},"pt":{"name":"Imunodeficiência combinada por deficiência de ZAP70","synonyms":["Deficiência de proteína cinase 70 associada à cadeia zeta"],"definition":"Uma doença genética de imunodeficiência combinada muito rara e grave, caracterizada por linfocitose, diminuição de células T CD8+ periféricas e presença de células T CD4+ circulantes normais, levando a disfunção imunológica."},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu ZAP70","synonyms":["Niedobór białak 70 związanego z łańcuchem zeta"]},"cs":{"name":"Kombinovaný imunodeficit způsobený deficitem ZAP70","synonyms":["Deficit zeta-asociovaného proteinu 70"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом ZAP70","synonyms":["Дефіцит бета-асоційованого протеїну 70"],"definition":"A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."},"zh":{"name":"ZAP70缺乏所致联合免疫缺陷","synonyms":["ζ-链相关蛋白70缺乏"]},"tr":{"name":"ZAP70 eksikliğine bağlı kombine immün yetmezlik","synonyms":["Zeta-ilişkili protein 70 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"269840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1718367094"},{"source":"MONDO","code":"0010023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536722","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931299","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718072,"name":"Combined immunodeficiency with low CD8 and normal CD4","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ZAP70","name":"zeta chain of T-cell receptor associated protein kinase 70","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301777[PMID]","hgnc":"12858","ensembl":"ENSG00000115085","omim":"176947","loci":["2q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-19","source":"30778343[PMID]_20301777[PMID]_11412303[PMID]_1333922[PMID]_2511270[PMID]","terms":[{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005390","label":"Recurrent opportunistic infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005422","label":"Absence of CD8-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005415","label":"Decreased proportion of CD8-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005523","label":"Lymphoproliferative disorder","frequency":"Very rare (<4-1%)","criteria":null}]}}