{"orpha":169160,"name":"T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency"],"definition":"A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169160/","orphanet_url":"https://www.orpha.net/en/disease/detail/169160","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en CD3delta/epsilon/zêta","synonyms":["DICS T-B+NK+ par déficit en CD3delta/epsilon/zêta","IDCS T-B+NK+ par déficit en CD3delta/epsilon/zêta","Immunodéficience combinée sévère T-B+NK+ par déficit en CD3delta/epsilon/zêta","SCID T-B+NK+ par déficit en CD3delta/epsilon/zêta"],"definition":"Déficit immunitaire combiné sévère T-B+ rare caractérisé par un phénotype immunitaire négatif pour les lymphocytes T, positif pour les lymphocytes B et positif pour les cellules NK (Natural killer). Les patients présentent des infections récurrentes pendant la petite enfance et le début de l'enfance. La sévérité des manifestations cliniques peut varier en fonction du défaut moléculaire sous-jacent, entraînant le décès précoce avant transplantation de moelle osseuse chez certains patients."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK+, durch CD3delta/CD3epsilon/CD3zeta-Mangel","synonyms":["T-B+NK+ SCID durch CD3delta/CD3epsilon/CD3zeta-Defizienz"],"definition":"Eine schwerer kombinierter T-B+-Immundefekt, der durch einen T-Zell-negativen, B-Zell-positiven und NK-Zell-positiven Immunphänotyp gekennzeichnet ist. Die Patienten präsentieren sich im Säuglingsalter oder in der frühen Kindheit mit rezidivierenden Infektionen. Die klinischen Manifestationen können je nach zugrundeliegendem molekularen Defekt unterschiedlich ausgeprägt sein und führen bei einigen Patienten ohne Knochenmarktransplantation zum frühen Tod"},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK+ por CD3delta/CD3epsilon/CD3zeta","synonyms":["IDCG T-B+NK+ por CD3delta/CD3epsilon/CD3zeta","SCID T-B+NK+ por CD3delta/CD3epsilon/CD3zeta"],"definition":"Es una inmunodeficiencia combinada grave T-B+ poco frecuente caracterizada por un fenotipo inmunológico de células T negativas, células B positivas y células asesinas naturales (NK) positivas. Los pacientes se presentan en la lactancia o en la infancia temprana con infecciones recurrentes. Las manifestaciones clínicas pueden variar en gravedad dependiendo del defecto molecular subyacente, provocando el fallecimiento precoz en algunos pacientes sin un trasplante de médula ósea."},"it":{"name":"Immunodeficienza combinata grave T-B+NK+ da deficit di CD3delta/CD3epsilon/CD3zeta","synonyms":["SCID T-B+NK+ da deficit di CD3delta/CD3epsilon/CD3zeta"]},"nl":{"name":"T-B+NK+ ernstige gecombineerde immuundeficiëntie door CD3delta/CD3epsilon/CD3zeta","synonyms":["T-B+NK+ SCID door CD3delta/CD3epsilon/CD3zeta"],"definition":"Een zeldzame T-B+ ernstige gecombineerde immuundeficiëntie, gekenmerkt door een T-cel negatief, B-cel positief, 'natural killer' (NK) cel positief immuunfenotype. Patiënten presenteren zich in de zuigelingentijd of vroege kindertijd met recidiverende infecties. Afhankelijk van het onderliggende moleculair defect kan de ernst van klinische manifestaties variëren, en bij sommige patiënten kan zonder beenmergtransplantatie vroeg overlijden optreden."},"pt":{"name":"Imunodeficiência combinada grave T-B+ por deficiência de CD3 delta/CD3 epsilon/CD3 zeta","definition":"\"Imunodeficiência combinada TB+ grave, rara, caracterizada por um fenótipo imunológico positivo para células T negativas, células B positivas e células natural killer (NK). Os doentes apresentam, na infância ou na primeira infância, infeções recorrentes. As manifestações clínicas podem variar em gravidade dependendo do defeito molecular subjacente, resultando em morte precoce sem transplante de medula óssea em alguns casos."},"pl":{"name":"Ciężki złożony Niedobór odporności T-B+ z powodu CD3delta/CD3epsilon/CD3zeta","synonyms":["T-B+ SCID z powodu CD3delta/CD3epsilon/CD3zeta"],"definition":"Rzadki, ciężki złożony niedobór odporności T-B+, charakteryzujący się fenotypem immunologicznym, w którym obecne są komórki B i NK, przy braku komórek T. Pacjenci zgłaszają się w okresie niemowlęcym lub we wczesnym dzieciństwie z nawracającymi infekcjami. Objawy kliniczne mogą różnić się stopniem nasilenia w zależności od defektu molekularnego leżącego u podstaw choroby. Niektórych pacjentów tylko przeszczep szpiku kostnego może uratować od przedwczesnej śmierci."},"cs":{"name":"T-B+ těžká kombinovaná imunodeficience způsobená CD3delta/CD3epsilon/CD3zeta","synonyms":["T-B+ SCID způsobená CD3delta/CD3epsilon/CD3zeta"]},"uk":{"name":"Т-В+ важкий комбінований імунодефіцит, зумовлений CD3delta/CD3epsilon/CD3zeta","synonyms":["Т-В+ SCID через CD3delta/CD3epsilon/CD3zeta"],"definition":"A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients."},"zh":{"name":"CD3δ/CD3ε/CD3ζ缺乏所致T-B+重症联合免疫缺陷","synonyms":["CD3β/CD3ε/CD3ζ缺乏所致T-B+ SCID"]},"tr":{"name":"CD3delta / CD3epsilon / CD3zeta'ya bağlı T-B + ağır kombine immün yetmezlik","synonyms":["CD3delta/CD3epsilon/CD3zetaya bağlı T-B + SCID"]}},"xrefs":[{"source":"OMIM","code":"610163","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615615","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615617","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"486462255"},{"source":"MONDO","code":"0015703","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720280,"name":"T-B+NK+ severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CD247","name":"CD247 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1677","ensembl":"ENSG00000198821","omim":"186780","loci":["1q24.2"]},{"symbol":"CD3D","name":"CD3 delta subunit of T-cell receptor complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1673","ensembl":"ENSG00000167286","omim":"186790","loci":["11q23.3"]},{"symbol":"CD3E","name":"CD3 epsilon subunit of T-cell receptor complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1674","ensembl":"ENSG00000198851","omim":"186830","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-26","source":"21883749[PMID]_16672702[PMID]_26235889[PMID]_15546002[PMID]","terms":[{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003460","label":"Decreased circulating total IgA","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008866","label":"Failure to thrive secondary to recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002722","label":"Recurrent abscess formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null}]}}