{"orpha":542301,"name":"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency"],"definition":"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542301/","orphanet_url":"https://www.orpha.net/en/disease/detail/542301","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en CARMIL2","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine capping protein regulator and myosin 1 linker 2"],"definition":"Maladie rare avec dérèglement et déficit immunitaire caractérisée par l'apparition, dès la petite enfance ou l'enfance, d'un phénotype variable comprenant des infections bactériennes, fongiques et virales récurrentes/persistantes avec atteinte de la peau, des voies respiratoires inférieures et du tractus gastro-intestinal, un eczéma, des allergies et des maladies inflammatoires de l'intestin, entre autres. Des tumeurs musculaires lisses associées au virus EBV ont également été rapportées. L'immunophénotypage met en évidence une diminution du nombre de lymphocytes T régulateurs (Tregs), ainsi qu'un déficit des réponses T CD4+ et CD8+ à la co-stimulation via CD3/CD28."},"de":{"name":"EBV-induzierte lymphoproliferative Krankheit durch CARMIL2-Mangel","synonyms":["CARMIL2-Defizienz"],"definition":"Eine seltene Erkrankung der Immunregulation mit Immundefekt, die durch einen variablen Phänotyp gekennzeichnet ist, der u. a. rezidivierende/persistierende bakterielle, Pilz- und Virusinfektionen mit Beteiligung der Haut, der unteren Atemwege und des Magen-Darm-Trakts, Ekzeme, Allergien und entzündliche Darmerkrankungen umfasst und im Kindesalter beginnt. Es wurde auch über EBV-bedingte Tumore der glatten Muskulatur berichtet. Die Immunphänotypisierung zeigt eine verringerte Anzahl von Tregs sowie eine mangelhafte CD3/CD28-Ko-Stimulationsreaktion bei CD4+ und CD8+ T-Zellen."},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de CARMIL2","synonyms":["Enfermedad linfoproliferativa inducida por EBV por deficiencia del regulador de la proteína de 'capping' y conector de miosina 1 tipo 2"],"definition":"Es una enfermedad poco frecuente de desregulación inmunológica con inmunodeficiencia caracterizada por la aparición en la lactancia o en la infancia de un fenotipo variable que incluye infecciones bacterianas, fúngicas y virales recurrentes/persistentes con afectación de la piel, del tracto respiratorio inferior y del tracto gastrointestinal, eccema, alergias y enfermedad inflamatoria intestinal, entre otras. También se ha descrito tumores de músculo liso relacionados con el VEB. El inmunofenotipo muestra una disminución de los recuentos de células Treg, así como una deficiente respuesta a la coestimulación CD3/CD28 en las células T CD4+ y CD8+."},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di CARMIL2","synonyms":["Malattia linfoproliferativa indotta da EBV da deficit del regolatore della proteina capping e del linker 2 della miosina 1"],"definition":"Si tratta di una malattia rara da disregolazione immunitaria con immunodeficienza, che esordisce nella prima infanzia o nell'infanzia con un fenotipo variabile che comprende le infezioni batteriche, micotiche e virali ricorrenti/persistenti con coinvolgimento della cute, delle vie aeree inferiori e del tratto gastrointestinale, eczema, allergie e malattia infiammatoria intestinale. Sono stati documentati anche tumori della muscolatura liscia correlati all'EBV. L'immunofenotipizzazione evidenzia una riduzione del numero di Treg e un deficit della risposta di co-stimolazione CD3/CD28 nelle cellule T CD4+ e CD8+."},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve ziekte door CARMIL2-deficiëntie","synonyms":["EBV-geïnduceerde lymfoproliferatieve ziekte door deficiëntie van 'capping protein regulator and myosin 1 linker 2'"],"definition":"Een zeldzame immuundisregulatie met immuundeficiëntie, gekenmerkt door een infantiel of in de kindertijd optredend variabel fenotype met onder meer recidiverende/persisterende bacteriële, fungale en virale infecties met betrokkenheid van huid, onderste luchtwegen en maag-darmstelsel, eczeem, allergieën, en inflammatoire darmziekte. EBV-gerelateerde tumoren van glad spierweefsel werden ook reeds gerapporteerd. Immuunfenotypering toont verminderd aantal Treg cellen, alsook een deficiënte CD3/CD28 co-stimulatie respons in CD4+ en CD8+ T-cellen."},"pt":{"name":"Imunodeficiência combinada por deficiência CARMIL2","synonyms":["Imunodeficiência combinada por deficiência RLTPR"]},"pl":{"name":"Ciężki złożony niedobór odporności z powodu deficytu CARMIL2","synonyms":["Ciężki złożony niedobór odporności z powodu niedoboru RLTPR"]},"cs":{"name":"Závažná kombinovaná imunodeficience způsobená deficitem CARMIL2","synonyms":["Závažná kombinovaná imunodeficience způsobená deficitem RLTPR"]},"uk":{"name":"Комбінований імунодефіцит внаслідок дефіциту CARMIL2","synonyms":["Комбінований імунодефіцит внаслідок дефіциту RLTPR"],"definition":"A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells."},"zh":{"name":"CARMIL2基因缺陷诱导的重症联合型免疫缺陷病","synonyms":["RLTPR基因缺陷诱导的重症联合型免疫缺陷病"]},"tr":{"name":"CARMIL2 eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["RLTPR eksikliğine bağlı ağır kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"618131","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0029134","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"29134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568557","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CARMIL2","name":"capping protein regulator and myosin 1 linker 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29226302[PMID]_27896283[PMID]","hgnc":"27089","ensembl":"ENSG00000159753","omim":"610859","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"27896283[PMID]_27647349[PMID]_28112205[PMID]_29479355[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27896283[PMID]_27647349[PMID]_28112205[PMID]_29479355[PMID]"}],"phenotypes":null}