{"orpha":183663,"name":"Hyper-IgM syndrome with susceptibility to opportunistic infections","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HIGM with susceptibility to opportunistic infections"],"definition":"Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to <i>P. jiroveci</i>, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183663/","orphanet_url":"https://www.orpha.net/en/disease/detail/183663","names":{"fr":{"name":"Syndrome hyper-IgM avec susceptibilité aux infections opportunistes","synonyms":["HIGM avec susceptibilité aux infections opportunistes"],"definition":"Déficit immunitaire combiné non-sévère rare, d'origine génétique caractérisé par des taux d'IgM sériques élevés ou normaux et des taux diminués ou nuls d'IgG, d'IgA et d'IgE sériques, à l'origine d'infections bactériennes récurrentes ou sévères et d'une susceptibilité accrue aux infections opportunistes (en particulier, la pneumonie due à <i>P. jiroveci</i> mais aussi des infections chroniques à cryptosporidies, à cryptocoques, à cytomégalovirus et à toxoplasmes). Des troubles hématologiques (neutropénie, anémie, thrombocytopénie) sont fréquemment associés. Les résultats immunologiques mettent en évidence une diminution du nombre de cellules B mémoires CD27+ et une absence de formation de centres germinatifs."},"de":{"name":"Hyper-IgM-Syndrom mit opportunistischen Infektionen","synonyms":["HIGM mit opportunistischen Infektionen"],"definition":"Das Hyper-IgM-Syndrom mit Anfälligkeit für opportunistische Infektionen ist eine seltene, genetisch bedingte, nicht-schwere kombinierte Immundefektstörung. Sie ist gekennzeichnet durch normale oder erhöhte IgM-Serumspiegel bei niedrigen oder fehlenden IgG-, IgA- und IgE-Serumkonzentrationen und geht einher mit rezidivierenden oder schweren bakteriellen Infektionen und einer erhöhten Anfälligkeit für opportunistische Infektionen (insbesondere Pneumonie durch P. jiroveci, aber auch chronische Kryptosporidien-, Kryptokokken-, Cytomegalie- und Toxoplasma-Infektionen). Hämatologische Störungen (Neutropenie, Anämie, Thrombozytopenie) sind häufig. Immunologische Befunde zeigen eine verminderte Anzahl von CD27+ Gedächtnis-B-Zellen und eine fehlende Keimzentrumsbildung."},"es":{"name":"Síndrome de hiper IgM con susceptibilidad a infecciones oportunistas","synonyms":["HIGM con susceptibilidad a infecciones oportunistas"],"definition":"Es un trastorno por inmunodeficiencia combinada no grave de origen genético y poco frecuente caracterizada por niveles séricos de IgM normales o elevados con niveles séricos de IgG, IgA e IgE bajos o ausentes. Se manifiesta con infecciones bacterianas recurrentes o graves y una mayor susceptibilidad a infecciones oportunistas (en particular, neumonía debida a <i>P. jiroveci</i>, pero también a infecciones crónicas por criptosporidium, criptococos, citomegalovirus y toxoplasma). Con frecuencia se asocia a trastornos hematológicos (neutropenia, anemia, trombocitopenia). Los hallazgos inmunológicos revelan una disminución del número de células B CD27+ de memoria y ausencia de centros germinales."},"it":{"name":"Sindrome iper-IgM con suscettibilità alle infezioni opportunistiche","synonyms":["HIGM con sucettibilità alle infezioni opportunistiche"],"definition":"La sindrome iper-IgM con suscettibilità alle infezioni opportunistiche è un'immunodeficienza genetica combinata grave rara, caratterizzata da livelli normali o elevati di IgM e concentrazioni basse o assenti di IgG, IgA e IgE nel siero. La malattia esordisce con infezioni batteriche ricorrenti o gravi e suscettibilità alle infezioni opportunistiche (soprattutto polmonite da P. jiroveci, ma anche criptosporidiosi cronica, criptococcosi, infezione da citomegalovirus e toxoplasmosi). Spesso i pazienti presentano malattie ematologiche (neutropenia, anemia e trombocitopenia). I test immunologici evidenziano una riduzione nel numero delle cellule B della memoria CD27+ e l'assenza dei centri germinativi."},"nl":{"name":"Hyper-IgM-syndroom met vatbaarheid voor opportunistische infecties","synonyms":["HIGM met vatbaarheid voor opportunistische infecties"],"definition":"Hyper-IgM-syndroom met vatbaarheid voor opportunistische infecties is een zeldzame, genetische, niet-ernstige, gecombineerde immuundeficiëntie 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 of ernstige bacteriële infecties en verhoogde vatbaarheid voor opportunistische infecties (voornamelijk pneumonie door <i>P. jiroveci</i>, maar ook chronische infecties met Cryptosporidium, cryptokokken, cytomegalovirus en Toxoplasma). Hematologische stoornissen (neutropenie, anemie, trombocytopenie) zijn vaak geassocieerd. Immunologische bevindingen tonen een verlaagd aantal CD27+ geheugen-B-cellen en een gebrek aan vorming van kiemcentra."},"pt":{"name":"Síndrome hiper-IgM com infeções oportunísticas"},"pl":{"name":"Zespół hiper-IgM z podatnością na zakażenia oportunistyczne","synonyms":["HIGM z podatnością na zakażenia oportunistyczne"]},"cs":{"name":"Hyper IgM syndrom s náchylností k oportunním infekcím","synonyms":["HIGM syndrom s náchylností k oportunním infekcím"]},"uk":{"name":"Синдром гіпер-IgM зі схильністю до опортуністичних інфекцій","synonyms":["HIGM зі сприйнятливістю до опортуністичних інфекцій"],"definition":"Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to <i>P. jiroveci</i>, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation."},"zh":{"name":"高IgM综合征易患机会性感染","synonyms":["HIGM伴机会致病菌易感"],"definition":"高IgM伴机会性感染易感综合征是一种罕见的遗传性非严重性联合免疫缺陷疾病，其主要临床表现为IgM血清水平正常或升高，而IgG、IgA和IgE血清浓度较低或缺失，反复或严重的细菌感染和机会性感染易感性增加（特别是肺孢子菌肺炎，以及慢性隐孢子虫、隐球菌、巨细胞病毒和弓形虫感染）。该病常出现血液系统疾病（中性粒细胞减少症、贫血、血小板减少症）。免疫学结果显示CD27+记忆B细胞数量减少，生发中心形成缺乏。"},"tr":{"name":"Fırsatçı enfeksiyonlara yatkınlık ile seyreden hiper-IgM sendromu","synonyms":["Fırsatçı enfeksiyonlara duyarlılık ile seyreden HIGM"]}},"xrefs":[{"source":"OMIM","code":"308230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606843","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":"965404565"},{"source":"MONDO","code":"0015975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190885","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[{"orpha":101090,"name":"Hyper-IgM syndrome type 3","type":"Clinical subtype"},{"orpha":101088,"name":"X-linked hyper-IgM syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CD40","name":"CD40 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11675497[PMID]","hgnc":"11919","ensembl":"ENSG00000101017","omim":"109535","loci":["20q13.12"],"via":{"orpha":101090,"name":"Hyper-IgM syndrome type 3"}},{"symbol":"CD40LG","name":"CD40 ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11935","ensembl":"ENSG00000102245","omim":"300386","loci":["Xq26.3"],"via":{"orpha":101088,"name":"X-linked hyper-IgM syndrome"}}],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}