{"orpha":276,"name":"T-B+NK- severe combined immunodeficiency due to gamma chain deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCIDX1","T-B+K- severe combined immunodeficiency, X-linked","T-B+NK- SCID due to gamma chain deficiency"],"definition":"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276/","orphanet_url":"https://www.orpha.net/en/disease/detail/276","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK- par déficit en chaîne gamma","synonyms":["DICS T-B+K- par déficit en chaîne gamma","Déficit immunitaire combiné sévère T-B+K- lié à l'X","IDCS T-B+K- par déficit en chaîne gamma","Immunodéficience combinée sévère T-B+K- par déficit en chaîne gamma","SCID T-B+K- par déficit en chaîne gamma","SCIDX1"],"definition":"Le déficit immunitaire combiné sévère (DICS) T-B+ par déficit en chaîne gamma, aussi appelé SCIDX1, est une forme de DICS caractérisée par des infections sévères et récurrentes associées à des diarrhées et un retard de croissance staturo-pondérale."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK-, durch Gamma-Ketten-Defekt","synonyms":["T-B+NK- SCID durch Gamma-Ketten-Defekt","SCIDX1","Immundefekt, kombinierter schwerer, T-B+K- , X-chromosomaler"],"definition":"Der kombinierte schwere Immundefekt (SCID) durch Gammaketten-Defekt, auch als SCID-X1 bezeichnet, ist eine Form des SCID (siehe dort) und gekennzeichnet durch schwere und rezidivierende Infektionen in Verbindung mit Diarrhöe und Gedeihstörung."},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK- por deficiencia de cadena gamma","synonyms":["IDCG T-B+NK- por deficiencia de cadena gamma","SCID T-B+NK- por deficiencia de cadena gamma","SCIDX1","Inmunodeficiencia combinada grave T-B+K- ligada al cromosoma X"],"definition":"La inmunodeficiencia combinada grave (IDCG) por déficit de cadena gamma, también denominada IDCG X1, es una forma de IDCG (consulte este término) caracterizada por infecciones graves y recurrentes, asociadas a diarrea y retraso en el crecimiento."},"it":{"name":"Immunodeficienza combinata grave T-B+NK- da deficit della catena gamma","synonyms":["SCID T-B+NK- da deficit della catena gamma","Immunodeficienza combinata grave T-B+NK-, legata all'X","SCIDX1"],"definition":"L'immunodeficienza combinata grave (SCID) da defict della catena gamma, nota anche come SCID-X1, è una forma di SCID (si veda questo termine) caratterizzata da infezioni gravi e ricorrenti, associate a diarrea e ritardo della crescita."},"nl":{"name":"T-B+NK- ernstige gecombineerde immuundeficiëntie door gammaketendeficiëntie","synonyms":["SCIDX1","T-B+K- ernstige gecombineerde immuundeficiëntie, X-gebonden","T-B+NK- SCID door gammaketendeficiëntie"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID) als gevolg van gammaketendeficiëntie, ook SCID-X1 genaamd, is een vorm van SCID (zie deze term) die wordt gekarakteriseerd door ernstige en weerkerende infecties, geassocieerd met diarree en groeiachterstand."},"pt":{"name":"Imunodeficiência combinada grave T-B+ devida a deficiência na cadeia gama"},"pl":{"name":"Ciężki złożony Niedobór odporności T-B spowodowany niedoborem łańcuchów gamma","synonyms":["SCIDX1","T-B+ ciężki Niedobór odporności sprzężony z chromosomem X","T-B+ SCID spowodowany niedoborem łańcuchów gamma"]},"cs":{"name":"T-B+ těžká kombinovaná imunodeficience způsobená deficitem gama řetězce","synonyms":["SCIDX1","T-B+ SCID způsobený deficitem gama řetězce","T-B+ X-vázaná těžká kombinovaná imunodeficience"]},"uk":{"name":"Т-В+ важкий комбінований імунодефіцит внаслідок дефіциту гамма-ланцюга","synonyms":["SCIDX1","Т-В+ SCID внаслідок дефіциту гамма-ланцюга","Т-В+ важкий комбінований імунодефіцит, зчеплений з Х-хромосомою"],"definition":"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."},"zh":{"name":"γ链缺乏所致T-B+严重联合免疫缺陷","synonyms":["X连锁T-B+严重联合免疫缺陷"]},"tr":{"name":"T-B + gama zinciri eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["SCIDX1","Gama zinciri eksikliğine bağlı T-B + SCID","T-B + ağır kombine immün yetmezlik, X'e bağlı"]}},"xrefs":[{"source":"OMIM","code":"300400","qualifier":"E","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":"893971384"},{"source":"MONDO","code":"0010315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707334","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5618","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720287,"name":"T-B+NK- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"IL2RG","name":"interleukin 2 receptor subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6010","ensembl":"ENSG00000147168","omim":"308380","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-18","source":"20301584[PMID]_11129345[PMID]_21732012[PMID]_26454313[PMID]_21094519[PMID]","terms":[{"hpo":"HP:0010701","label":"Abnormal immunoglobulin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040218","label":"Reduced natural killer cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031397","label":"Reduced proportion of naive T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031545","label":"Abnormally low T cell receptor excision circle level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","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:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005390","label":"Recurrent opportunistic infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030813","label":"Absent tonsils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002732","label":"Lymph node hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005376","label":"Recurrent Haemophilus influenzae infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011370","label":"Recurrent cutaneous fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005428","label":"Severe recurrent varicella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","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}]}}