{"orpha":183666,"name":"Hyper-IgM syndrome without susceptibility to opportunistic infections","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HIGM without susceptibility to opportunistic infections"],"definition":"Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183666/","orphanet_url":"https://www.orpha.net/en/disease/detail/183666","names":{"fr":{"name":"Syndrome hyper-IgM sans susceptibilité aux infections opportunistes","synonyms":["HIGM sans susceptibilité aux infections opportunistes"],"definition":"Déficit immunitaire primaire rare d'origine génétique, dû à un défaut de l'immunité adaptative, caractérisé par des taux sériques d'IgM normaux ou élevés et des taux sériques d'IgG, d'IgA et d'IgE faibles ou nuls, qui se manifeste par des infections bactériennes sinopulmonaires et gastro-intestinales récurrentes, avec une hyperplasie lymphoïde fréquente (lymphadénopathie périphérique, hypertrophie amygdalienne), en l'absence de susceptibilité accrue aux infections opportunistes. Des manifestations auto-immunes (y compris des cytopénies immunitaires, des arthrites et des hépatites) sont parfois associées. Les résultats immunologiques révèlent l'absence de recombinaison avec commutation de classe des immunoglobulines et l'absence d'hypermutations somatiques des immunoglobulines en présence d'un nombre normal de cellules B mémoires CD27+."},"de":{"name":"Hyper-IgM-Syndrom ohne opportunistische Infektionen","synonyms":["HIGM ohne opportunistische Infektionen"]},"es":{"name":"Síndrome de hiper IgM sin susceptibilidad a infecciones oportunistas","synonyms":["HIGM sin susceptibilidad a infecciones oportunistas"],"definition":"Es una inmunodeficiencia primaria, genética y poco frecuente, causada por un defecto de la inmunidad adaptativa. Está caracterizado por niveles séricos de IgM normales o elevados con concentraciones séricas bajas o ausentes de IgG, IgA e IgE, que se manifiesta con infecciones bacterianas sinopulmonares y gastrointestinales, frecuente hiperplasia linfoide (linfadenopatía periférica, hipertrofia amigdalar), sin un aumento de la susceptibilidad a infecciones oportunistas. Ocasionalmente asocia manifestaciones autoinmunes (incluyendo citopenias autoinmunes, artritis y hepatitis). Los hallazgos inmunológicos revelan un fallo de cambio de clase de inmunoglobulina y de defectos de hipermutaciones somáticas de las inmunoglobulinas en presencia de un recuento normal de células B de memoria CD27+."},"it":{"name":"Sindrome iper-IgM senza suscettibilità alle infezioni opportunistiche","synonyms":["HIGM senza suscettibilità alle infezioni opportunistiche"],"definition":"La sindrome iper-IgM senza infezioni opportunistiche è un'immunodeficienza primitiva rara di origine genetica, causata da un difetto dell'immunità adattativa. È caratterizzata da livelli normali o elevati di IgM e concentrazioni basse o assenti di IgG, IgA e IgE nel siero. Esordisce con infezioni batteriche sinopolmonari e gastrointestinali ricorrenti, frequente iperplasia linfoide (linfoadenopatia periferica, ipertrofia delle tonsille), in assenza di suscettibilità alle infezioni opportunistiche. Raramente si associano segni di patologie autoimmuni (citopenia, artrite, epatite). A livello immunologico sono assenti la ricombinazione dello switch di classe delle immunoglobuline e i difetti delle ipermutazioni somatiche delle immunoglobuline, in presenza di un numero normale di cellule B della memoria CD27+."},"nl":{"name":"Hyper-IgM-syndroom zonder vatbaarheid voor opportunistische infecties","synonyms":["HIGM zonder vatbaarheid voor opportunistische infecties"],"definition":"Hyper-IgM-syndroom zonder vatbaarheid voor opportunistische infecties is een zeldzame, genetische, primaire immuundeficiëntie als gevolg van een defect van het adaptieve (verworven) immuunsysteem, die gekarakteriseerd wordt door normale of verhoogde IgM-gehaltes in het serum met lage of afwezige IgG-, IgA- en IgE-concentraties in het serum, en die zich manifesteert met recurrente bacteriële sinopulmonale en gastro-intestinale infecties, met frequente lymfoïde hyperplasie (perifere lymfadenopathie, hypertrofie van de tonsillen), zonder verhoogde vatbaarheid voor opportunistische infecties. Auto-immune manifestaties (waaronder immune cytopenieën, artritis en hepatitis) zijn soms geassocieerd. Immunologische bevindingen tonen afwezigheid van immunoglobuline klasse-switch recombinatie en gebrek aan defecten van somatische hypermutaties van immunoglobulinen in aanwezigheid van normale aantallen CD27+ geheugen-B-cellen."},"pt":{"name":"Síndrome hiper-IgM sem infeções oportunísticas"},"pl":{"name":"Zespół hiper-IgM bez podatności na zakażenia oportunistyczne","synonyms":["HIGM bez podatności na zakażenia oportunistyczne"]},"cs":{"name":"Hyper IgM syndrom bez náchylnosti k oportunním infekcím","synonyms":["HIGM syndrom bez náchylnosti k oportunním infekcím"]},"uk":{"name":"Синдром гіпер-IgM без схильності до опортуністичних інфекцій","synonyms":["HIGM без чутливості до опортуністичних інфекцій"],"definition":"Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells."},"zh":{"name":"高IgM综合征不易患机会性感染","synonyms":["HIGM不伴机会致病菌易感"],"definition":"高IgM不伴机会性感染易感综合征是一种罕见的遗传性原发性免疫缺陷，其主要临床表现为IgM血清水平正常或升高，而IgG、IgA和IgE血清浓度低或缺乏，复发性细菌性肺和胃肠道感染，淋巴组织频繁增生（外周淋巴结病、扁桃体肥大），不增加机会性感染的易感性。该病偶尔出现自身免疫性疾病（包括免疫细胞减少、关节炎和肝炎）。免疫学发现存在正常数量的CD27+记忆B细胞的情况下，免疫球蛋白类别转化重组缺陷和免疫球蛋白体细胞高频突变缺陷。"},"tr":{"name":"Fırsatçı enfeksiyonlara yatkınlığı olmayan hiper-IgM sendromu","synonyms":["Fırsatçı enfeksiyonlara duyarlılık ile seyretmeyen HIGM"]}},"xrefs":[{"source":"OMIM","code":"605258","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608106","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608184","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"776254602"},{"source":"MONDO","code":"0015976","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331240,"name":"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells","classifications":[156,195,233]}],"children":[{"orpha":723146,"name":"Hyper-IgM syndrome due to INO80 deficiency","type":"Etiological subtype"},{"orpha":101089,"name":"Hyper-IgM syndrome type 2","type":"Clinical subtype"},{"orpha":101091,"name":"Hyper-IgM syndrome type 4","type":"Clinical subtype"},{"orpha":101092,"name":"Hyper-IgM syndrome type 5","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"AICDA","name":"activation induced cytidine deaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11007475[PMID]","hgnc":"13203","ensembl":"ENSG00000111732","omim":"605257","loci":["12p13.31"],"via":{"orpha":101089,"name":"Hyper-IgM syndrome type 2"}},{"symbol":"INO80","name":"INO80 complex ATPase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25312759[PMID]","hgnc":"26956","ensembl":"ENSG00000128908","omim":"610169","loci":["15q15.1"],"via":{"orpha":723146,"name":"Hyper-IgM syndrome due to INO80 deficiency"}},{"symbol":"UNG","name":"uracil DNA glycosylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12958596[PMID]_15967827[PMID]","hgnc":"12572","ensembl":"ENSG00000076248","omim":"191525","loci":["12q24.11"],"via":{"orpha":101092,"name":"Hyper-IgM syndrome type 5"}}],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}