{"orpha":504530,"name":"Combined immunodeficiency due to Moesin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to Moesin deficiency","MSN-related combined immunodeficiency","X-linked Moesin-associated immunodeficiency"],"definition":"A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-504530/","orphanet_url":"https://www.orpha.net/en/disease/detail/504530","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en Moesin","synonyms":["CID par déficit en Moesin","DIC par déficit en Moesin"],"definition":"Immunodéficience combinée T/B caractérisée par des infections récurrentes par le virus varicelle-zona ou par des infections bactériennes survenant pendant l'enfance. Des crampes et des lésions de Molluscum ont également été rapportées. Les examens biologiques révèlent une lymphopénie profonde et persistante, une hypogammaglobulinémie, une faible réponse immunitaire aux antigènes vaccinaux et une neutropénie fluctuante."},"de":{"name":"Kombinierter Immundefekt durch Moesin-Defizienz","synonyms":["CID durch Moesin-Mangel","Immundefekt, X-chromosomaler, MSN-assoziierter","Immundefekt, kombinierter, durch Moesin-Mangel"],"definition":"Eine kombinierter T- und B-Zell-Immundefekt, bei der es im Kindesalter zu wiederkehrenden bakteriellen und Varizella-Zoster-Virus-Infektionen kommt. Es wurde auch über Ekzeme und wiederkehrende Dellwarzen berichtet. Laboruntersuchungen zeigen eine ausgeprägte und anhaltende Lymphopenie, eine Hypogammaglobulinämie, eine schlechte Immunantwort auf Impfstoffantigene und eine fluktuierende Neutropenie."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de moesina","synonyms":["IDC por deficiencia de moesina","Inmunodeficiencia combinada asociada a MSN","Inmunodeficiencia ligada al cromosoma X asociada a moesina"],"definition":"Es una inmunodeficiencia combinada de células T y B poco frecuente caracterizada por el inicio en la infancia de infecciones recurrentes por bacterias y por el virus varicela-zóster. También se ha descrito la presencia de eccemas y molusco recurrente. Las pruebas de laboratorio revelan linfopenia profunda y persistente, hipogammaglobulinemia, deficiente respuesta inmunitaria a antígenos vacunales y neutropenia fluctuante."},"it":{"name":"Immunodeficienza combinata da deficit di moesina","definition":"Si tratta di un'immunodeficienza combinata rara delle cellule T e B, caratterizzata da infezioni batteriche e da virus varicella-zoster ricorrenti ad esordio infantile. I pazienti possono presentare anche eczema e mollusco ricorrente. Gli esami di laboratorio evidenziano linfopenia grave e persistente, ipogammaglobulinemia, scarsa risposta immunitaria agli antigeni vaccinali e neutropenia intermittente."},"nl":{"name":"Gecombineerde immuundeficiëntie door Moesin-deficiëntie","synonyms":["CID door Moesin-deficiëntie","MSN-gerelateerde gecombineerde immuundeficiëntie","X-gebonden Moesin-geassocieerde immuundeficiëntie"],"definition":"Een zeldzame gecombineerde T- en B-cel-immuundeficiëntie, gekarakteriseerd door aanvang in de kindertijd van recidiverende bacteriële infecties en infecties door varicella-zostervirus. Eczeem en recidiverende molluscum werden ook reeds gerapporteerd. Laboratoriumonderzoek toont zeer ernstige en persisterende lymfopenie, hypogammaglobulinemie, ondermaatse immuunrespons op antigenen in vaccins, en fluctuerende neutropenie."},"pt":{"name":"Imunodeficiência combinada por deficiência de Moesina"},"pl":{"name":"Złożony niedobór odporności z powodu deficytu moezyny","synonyms":["CID due to Moesin deficiency","MSN-related combined immunodeficiency","X-linked Moesin-associated immunodeficiency"]},"cs":{"name":"Kombinovaná imunodeficience způsobená nedostatkem moesinu","synonyms":["MSN-vázaná kombinovaná imunodeficience","X-vázaná moesin-asociovaná imunodeficience","CID způsobená deficitem moesinu"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом Моезину","synonyms":["КІД через дефіцит моезіну","Комбінований імунодефіцит, повязаний з MSN","Х-зчеплений моезін-асоційований імунодефіцит"],"definition":"A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia."},"zh":{"name":"缺乏膜突蛋白联合免疫缺陷","synonyms":["X染色体连锁的膜突蛋白相关免疫缺陷"],"definition":"一种罕见的T细胞和B细胞联合免疫缺陷，其特点是儿童期开始反复感染细菌和水痘带状疱疹病毒。也有报道湿疹和复发性软疣。实验室研究显示有极度而持续性的淋巴细胞减少、低丙种球蛋白血症、对疫苗抗原的免疫反应差和波动性中性粒细胞减少。"},"tr":{"name":"Moesin eksikliğine bağlı kombine immün yetmezlik","synonyms":["Moesin eksikliğine bağlı CID","MSN-ilişkili kombine immün yetmezlik","X'e bağlı Moesin ile ilişkili immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"300988","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568123","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"MSN","name":"moesin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27405666[PMID]","hgnc":"7373","ensembl":"ENSG00000147065","omim":"309845","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27405666[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27405666[PMID]"}],"phenotypes":null}