{"orpha":75391,"name":"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary immunodeficiency due to MCM4 deficiency"],"definition":"A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75391/","orphanet_url":"https://www.orpha.net/en/disease/detail/75391","names":{"fr":{"name":"Déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale","synonyms":["Déficit immunitaire primaire par déficit en MCM4","Immunodéficience primaire avec déficit en cellules NK et insuffisance surrénale"],"definition":"Anomalie rare de réparation de l'ADN autre qu'un déficit immunitaire combiné à cellules B et T, caractérisée par un retard de croissance intra-utérin et post-natal à l'origine d'une petite taille, d'une microcéphalie, d'un déficit en glucocorticoïdes et en cellules NK, et d'infections virales récurrentes. Une prédisposition accrue aux cancers peut être observée chez les patients."},"de":{"name":"Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz","synonyms":["Primärer Immundefekt durch MCM4-Mangel"],"definition":"Ein seltener DNA-Reparaturdefekt, der nicht zu den kombinierten T- und B-Zell-Immundefekten gehört. Er ist durch eine intrauterine und postnatale Wachstumsretardierung gekennzeichnet, die zu Kleinwuchs, Mikrozephalie, Glukokortikoidmangel, Mangel an natürlichen Killerzellen und rezidivierenden Virusinfektionen führt. Die Patienten können auch eine erhöhte Krebsanfälligkeit aufweisen."},"es":{"name":"Inmunodeficiencia primaria con deficiencia de células natural-killer e insuficiencia suprarrenal","synonyms":["Inmunodeficiencia primaria por deficiencia en MCM4"],"definition":"Es un defecto poco frecuente de reparación del ADN distinto de las inmunodeficiencias combinadas de linfocitos T y linfocitos B caracterizada por retraso del crecimiento intrauterino y posnatal que da como resultado talla baja, microcefalia, deficiencia de glucocorticoides, deficiencia de células natural killer e infecciones virales recurrentes. Los pacientes también pueden presentar una mayor susceptibilidad al cáncer."},"it":{"name":"Immunodeficienza primitiva con deficit delle cellule natural killer e insufficienza surrenalica","synonyms":["Immunodeficienza primitiva da deficit di MCM4"],"definition":"Si tratta di un difetto raro della riparazione del DNA, diverso dalle immunodeficienze combinate dei linfociti T e B, caratterizzato da ritardo della crescita pre- e postnatale con conseguente bassa statura, microcefalia, deficit di glucocorticoidi, deficit delle cellule natural killer e infezioni virali ricorrenti. Può predisporre allo sviluppo dei tumori."},"nl":{"name":"Primaire immuundeficiëntie met deficiëntie van natuurlijke killercellen en adrenale insufficiëntie","synonyms":["Primaire immuundeficiëntie door MCM4-deficiëntie"],"definition":"Een zeldzaam defect van DNA-reparatie anders dan gecombineerde T-cel- en B-cel-immuundeficiënties, gekarakteriseerd door intra-uteriene en postnatale groeiretardatie die resulteert in kleine gestalte, microcefalie, glucocorticoïddeficiëntie, deficiëntie van 'natural killer'-cellen, en recidiverende virale infecties. Patiënten hebben mogelijk ook verhoogde susceptibiliteit voor kanker."},"pt":{"name":"Imunodeficiência primária com deficiência de células NK e insuficiência supra-renal","synonyms":["Imunodeficiência primária por deficiência de MCM4"]},"pl":{"name":"Niedobór odporności z deficytem komórek naturalnych zabójców i niewydolnością nadnerczy","synonyms":["Pierwotny Niedobór odporności spowodowany deficytem MCM4"]},"cs":{"name":"Primární imunodeficience s deficitem NK buněk a adrenální nedostatečností","synonyms":["Primární imunodeficience způsobená deficitem MCM4"]},"uk":{"name":"Первинний імунодефіцит з дефіцитом натуральних кілерів та недостатністю надниркових залоз","synonyms":["Первинний імунодефіцит внаслідок дефіциту MCM4"],"definition":"A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer."},"zh":{"name":"原发性免疫缺陷伴自然杀伤细胞缺乏和肾上腺功能减退","synonyms":["MCM4缺陷所致原发性免疫缺陷"]},"tr":{"name":"Doğal öldürücü hücre eksikliği ve adrenal yetmezlik ile seyreden primer immün yetmezlik","synonyms":["MCM4 eksikliğine bağlı primer immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"609981","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012383","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518328","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"MCM4","name":"minichromosome maintenance complex component 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22405088[PMID]_22354170[PMID]","hgnc":"6947","ensembl":"ENSG00000104738","omim":"602638","loci":["8q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22354167[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22354167[PMID]"}],"phenotypes":null}