{"orpha":431166,"name":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary immunodeficiency with post-MMR vaccine viral infection"],"definition":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431166/","orphanet_url":"https://www.orpha.net/en/disease/detail/431166","names":{"fr":{"name":"Déficit immunitaire primaire avec infection virale disséminée post-vaccination de la rougeole, des oreillons et de la rubéole","synonyms":["Déficit immunitaire primaire avec infection virale disséminée post-vaccination ROR"],"definition":"Un déficit immunitaire primaire rare causé par un trouble de l'immunité innée. Il se caractérise par une susceptibilité sélective aux infections virales, en particulier après un challenge systémique avec des vaccins à virus vivants, tels que le vaccin contre la rougeole, les oreillons et la rubéole (ROR). Les patients présentent des manifestations sévères, parfois fatales de la maladie virale, incluant une encéphalite, une hépatite et une pneumonie."},"de":{"name":"Immundefekt, primärer, mit Virusinfektion nach MMR-Impfung","synonyms":["Immundefekt, primärer, mit disseminierter Masern-Infektion durch Impfvirus"],"definition":"Der primäre Immundefekt mit Virusinfektion nach MMR-Impfung ist ein seltene Immunstörung aufgrund eines Defekts in der angeborenen Immunität, der durch eine selektive Anfälligkeit für Virusinfektionen gekennzeichnet ist, insbesondere nach systemischer Belastung mit viralen Lebendimpfstoffen, wie dem Masern, Mumps und Röteln (MMR)-Impfstoff. Patienten zeigen schwere, potenziell tödliche Manifestationen der Viruserkrankung, einschließlich Enzephalitis, Hepatitis und Pneumonie."},"es":{"name":"Inmunodeficiencia primaria con infección viral post- vacunación sarampión-paperas-rubéola","synonyms":["Inmunodeficiencia primaria con infección viral post-SPR"],"definition":"La inmunodeficiencia primaria con infección viral post-vacunación sarampión-paperas-rubéola, es una inmunodeficiencia primaria poco frecuente debida a un defecto en la inmunidad innata caracterizado por susceptibilidad selectiva a infecciones virales, particularmente después de un compromiso sistémico con vacunas virales vivas, tales como la vacuna contra el sarampión, las paperas y la rubéola (MMR). Los afectados presentan manifestaciones graves y potencialmente mortales de enfermedad viral, incluyendo encefalitis, hepatitis y neumonitis."},"it":{"name":"Immunodeficienza primitiva con infezione virale post-vaccinazione anti morbillo-parotite-rosolia","synonyms":["Immunodeficienza primitiva con infezione disseminata da morbillo vaccinale"],"definition":"L'immunodeficienza primitiva con infezione virale post-vaccinazione anti-morbillo-parotite-rosolia è un'immunodeficienza primitiva rara causata da un difetto dell'immunità innata. È caratterizzata da suscettibilità selettiva alle infezioni virali, in particolare a seguito della risposta sistemica ai vaccini con virus vivi, come quello per il morbillo, la parotite e la rosolia (MPR). I pazienti presentano segni clinici gravi e potenzialmente letali, secondari alle infezioni virali, che comprendono l'encefalite, l'epatite e la polmonite."},"nl":{"name":"Primaire immuundeficiëntie met virale infectie na mazelen-bof-rodehond-vaccinatie","synonyms":["Primaire immuundeficiëntie met virale infectie na MBR-vaccinatie"],"definition":"Primaire immuundeficiëntie met virale infectie na mazelen-bof-rodehond-vaccinatie is een zeldzame primaire immuundeficiëntie door een defect in het aspecifiek (aangeboren) immuunsysteem, en wordt gekarakteriseerd door selectieve vatbaarheid voor virale infecties, voornamelijk na systemische provocatie met levende virale vaccins, zoals vaccin tegen de mazelen, bof en rodehond (MBR). Patiënten vertonen ernstige, potentieel fatale, manifestaties bij virale ziekte, waaronder encefalitis, hepatitis en pneumonitis."},"pt":{"name":"Imunodeficiência primária devido a défice de STAT2"},"pl":{"name":"Pierwotny niedobór odporności z infekcją wirusową po szczepionce przeciw śwince-odrze-różyczce (MMR)","synonyms":["Pierwotny niedobór odporności z infekcją wirusową po szczepionce MMR"],"definition":"*Pierwotny niedobór odporności z infekcją wirusową po szczepionce przeciw śwince-odrze-różyczce (MMR) jest rzadkim, pierwotnym niedoborem odporności, który rozwija się wskutek defektu odporności wrodzonej. Charakteryzuje się selektywną podatnością na infekcje wirusowe, szczególnie po ogólnoustrojowej prowokacji żywymi szczepionkami zawierającymi żywe wirusy, takimi jak szczepionka przeciw odrze, śwince i różyczce (MMR). U pacjentów występuje ciężki, potencjalnie śmiertelny przebieg zakażenie wirusowego, w tym obejmujący mózg, wątrobę i płuca."},"cs":{"name":"Primární imunodeficit způsobený deficitem STAT2","synonyms":["Primární imunodeficience s diseminací očkovacího kmene spalniček"]},"uk":{"name":"Первинний імунодефіцит з поствакцинальною вірусною інфекцією кору-паротиту-краснухи","synonyms":["Первинний імунодефіцит з пост-ММР-вакцинальною вірусною інфекцією"],"definition":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis."},"zh":{"name":"原发性免疫缺陷伴麻腮风疫苗接种后易感","synonyms":["原发性免疫缺陷伴麻腮风疫苗接种后易感"],"definition":"麻腮风疫苗注射后诱发的原发性免疫缺陷是一种罕见的原发性免疫缺陷，这是由于先天性免疫缺陷导致，其特征在于对病毒感染有选择性易感性，特别是在活病毒疫苗（例如麻疹，腮腺炎和风疹（MMR）疫苗）。患者表现出严重的，可能致命的病毒性疾病表现，包括脑炎，肝炎和肺炎。"},"tr":{"name":"Kızamık-kabakulak-kızamıkçık aşısı viral enfeksiyonu ile seyreden primer immün yetmezlik","synonyms":["MMR aşısı sonrası viral enfeksiyon ile seyreden primer immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"616636","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616669","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":431156,"name":"Primary immunodeficiency with predisposition to severe viral infection","classifications":[156,195]}],"children":[],"genes":[{"symbol":"STAT2","name":"signal transducer and activator of transcription 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23391734[PMID]","hgnc":"11363","ensembl":"ENSG00000170581","omim":"600556","loci":["12q13.3"]},{"symbol":"IFNAR2","name":"interferon alpha and beta receptor subunit 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26424569[PMID]","hgnc":"5433","ensembl":"ENSG00000159110","omim":"602376","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"26424569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26424569[PMID]"}],"phenotypes":null}