{"orpha":720371,"name":"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-720371/","orphanet_url":"https://www.orpha.net/en/disease/detail/720371","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en LCP2"},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK+, durch LCP2-Mangel","synonyms":["T-B+NK+ SCID durch LCP2-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de LCP2"},"it":{"name":"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency"},"nl":{"name":"T-B+NK+ ernstige gecombineerde immuundeficiëntie door LCP2-deficiëntie","synonyms":["T-B+NK+ SCID door LCP2-deficiëntie","T-B+NK+ ernstige gecombineerde immuundeficiëntie door deficiëntie van 'lymphocyte cytosolic protein 2'","T-cel negatieve B-cel positieve NK-cel positieve ernstige gecombineerde immuundeficiëntie door LCP2-deficiëntie"]},"pt":{"name":"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency"},"pl":{"name":"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency"},"cs":{"name":"T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency"}},"xrefs":[{"source":"OMIM","code":"619374","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","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":"LCP2","name":"lymphocyte cytosolic protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33231617[PMID]","hgnc":"6529","ensembl":null,"omim":null,"loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}