{"orpha":504523,"name":"T-B+NK+ severe combined immunodeficiency due to LAT deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK+ SCID due to LAT deficiency"],"definition":"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-504523/","orphanet_url":"https://www.orpha.net/en/disease/detail/504523","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en LAT","synonyms":["DICS T-B+NK+ par déficit en LAT","IDCS T-B+NK+ par déficit en LAT","Immunodéficience combinée sévère T-B+NK+ par déficit en LAT"],"definition":"Déficit immunitaire combiné sévère rare caractérisé par une lymphopénie des lymphocytes T et une absence de réponse proliférative des lymphocytes T, ainsi qu'un nombre normal de lymphocytes B et de cellules NK. Les patients manifestent dans les premiers mois de leur vie des infections récurrentes sévères, un retard de croissance staturo-pondéral, des maladies hématologiques auto-immunes et/ou une lymphoprolifération avec splénomégalie."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK+, LAT-Mangel","synonyms":["T-B+NK+ SCID durch LAT-Defizienz"],"definition":"Ein schwerer kombinierter Immundefekt, der durch T-Zell-Lymphopenie und fehlende T-Zell-Proliferationsreaktionen gekennzeichnet ist, während die Anzahl der B-Zellen und natürlichen Killerzellen normal ist. Die Patienten zeigen in den ersten Lebensmonaten schwere wiederkehrende Infektionen, Gedeihstörungen, hämatologische Autoimmunerkrankungen und/oder Lymphoproliferation mit Splenomegalie."},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de LAT","synonyms":["SCID T-B+NK+ por deficiencia de LAT","IDCG T-B+NK+ por deficiencia de LAT"],"definition":"Es una inmunodeficiencia combinada grave poco frecuente caracterizada por linfopenia de células T y ausencia de respuestas proliferativas en las células T, con recuentos normales de células B y de células natural killer. Los pacientes se presentan en los primeros meses de vida con graves infecciones recurrentes, fallo de medro, trastornos hematológicos autoinmunes y/o linfoproliferación con esplenomegalia."},"it":{"name":"Immunodeficienza combinata grave T-B+NK+ da deficit di LAT","synonyms":["SCID T-B+NK+ da deficit di LAT"],"definition":"Si tratta di un'immunodeficienza combinata grave rara, caratterizzata da linfopenia dei linfociti T, assenza di risposte proliferative dei linfociti e T e da un numero normale di linfociti B e cellule natural killer. La malattia esordisce nei primi mesi di vita con infezioni ricorrenti gravi, ritardo della crescita, malattie ematologiche autoimmuni e/o linfoproliferazione con splenomegalia."},"nl":{"name":"T-B+NK+ ernstige gecombineerde immuundeficiëntie door LAT-deficiëntie","synonyms":["T-B+NK+ SCID door LAT-deficiëntie"],"definition":"Een zeldzame, ernstige gecombineerde immuundeficiëntie, gekarakteriseerd door lymfopenie van T-cellen en afwezigheid van proliferatieve respons van T-cellen, en normale aantallen van B-cellen en 'natural killer'-cellen. Patiënten presenteren zich tijdens de eerste levensmaanden met ernstige recidiverende infecties, groeifalen, hematologische auto-immuunziekten, en/of lymfoproliferatie met splenomegalie."},"pt":{"name":"Imunodeficiência combinada grave por deficiência LAT"},"pl":{"name":"Ciężki złożony niedobór odporności z powodu niedoboru LAT","synonyms":["T-B+NK+ SCID due to LAT deficiency"]},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem LAT","synonyms":["SCID způsobená deficitem LAT"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом LAT","synonyms":["ТКІД через дефіцит LAT"],"definition":"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly."},"zh":{"name":"LAT缺失导致严重联合免疫缺陷症","synonyms":["SCID due to LAT deficiency"]},"tr":{"name":"LAT eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["LAT eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"617514","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":"attributed","validated":true},{"source":"MONDO","code":"0044721","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4479588","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":"LAT","name":"linker for activation of T cells","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27522155[PMID]","hgnc":"18874","ensembl":"ENSG00000213658","omim":"602354","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27522155[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27522155[PMID]"}],"phenotypes":null}