{"orpha":437552,"name":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity","CD16 deficiency"],"definition":"A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-437552/","orphanet_url":"https://www.orpha.net/en/disease/detail/437552","names":{"fr":{"name":"Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules Natural Killer","synonyms":["Déficit en CD16","Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules NK","Immunodéficience primaire autosomique récessive avec un défaut de cytotoxicité spontanée des cellules NK","Immunodéficience primaire autosomique récessive avec un défaut de cytotoxicité spontanée des cellules Natural Killer"],"definition":"Déficit immunitaire primaire génétique rare caractérisé par des infections virales cutanées et respiratoires récurrentes (virus d'Epstein-Barr, virus herpès simplex, papillomavirus humain), un défaut de cytotoxicité spontanée des cellules NK, mais une cytotoxicité à médiation cellulaire dépendante des anticorps préservée. Aucune autre anomalie n'est détectée lors du bilan immunologique."},"de":{"name":"Autosomal-rezessiver primärer Immundefekt mit defekter spontaner natürlicher Killer-Zellen-Zytotoxizität","synonyms":["Autosomal-rezessiver primärer Immundefekt mit defekter spontaner NK-Zellen-Zytotoxizität","CD16-Mangel"],"definition":"Eine seltener, genetisch bedingter primärer Immundefekt, gekennzeichnet durch rezidivierende Virusinfektionen der Atemwege und der Haut (Ebstein-Barr-Virus, Herpes-simplex-Virus, humanes Papillomavirus), mangelhafte spontane Zytotoxizität der natürlichen Killerzellen, aber erhaltene antikörperabhängige zelluläre Zytotoxizität."},"es":{"name":"Inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células natural killer","synonyms":["Deficiencia de CD16","Inmunodeficiencia primaria autosómica recesiva con citotoxicidad espontánea de las células NK defectuosa","Inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células NK"],"definition":"Es una inmunodeficiencia primaria, genética y poco frecuente, caracterizada por infecciones virales respiratorias y cutáneas recurrentes (virus de Epstein-Barr, virus del herpes simple, virus del papiloma humano) y deficiente citotoxicidad espontánea de las células natural killer con citotoxicidad celular dependiente de anticuerpos respetada. No se presentan otras anomalías en el examen inmunológico."},"it":{"name":"Immunodeficienza primitiva autosomica recessiva con difetto della citotossicità spontanea delle cellule natural killer","definition":"È un'immunodeficienza primitiva genetica rara, caratterizzata da infezioni virali respiratorie e cutanee ricorrenti (virus Epstein-Barr, herpes simplex virus, papillomavirus umano), difetto della citotossicità spontanea delle cellule natural killer, con normale citotossicità cellulare dipendente dagli anticorpi. Le analisi immunologiche non evidenziano altre anomalie."},"nl":{"name":"Autosomaal recessieve primaire immuundeficiëntie met defecte spontane natuurlijke killercel-cytotoxiciteit","synonyms":["Autosomaal recessieve primaire immuundeficiëntie met defecte spontane NK-cel-cytotoxiciteit","CD16-deficiëntie"],"definition":"Een zeldzame, genetische primaire immuundeficiëntie, gekarakteriseerd door terugkerende virale infecties van ademhalingsstelsel en huid (Epstein-Barrvirus, herpes-simplexvirus, humaan papillomavirus), en deficiënte spontane cytotoxiciteit van natuurlijke killercellen, maar met behoud van antilichaamafhankelijke cellulaire cytotoxiciteit. Er zijn geen andere anomalieën aanwezig bij immunologisch onderzoek."},"pt":{"name":"Imunodeficiência primária autossómica recessiva com defeito de citotoxicidade espontânea das células natural killer","synonyms":["Imunodeficiência primária autossómica recessiva com defeito de citotoxicidade espontânea das células NK"]},"pl":{"name":"Autosomalny recesywny pierwotny Niedobór odporności ze spontanicznym defektem cytotoksyczności komórek naturalnych zabójców","synonyms":["Autosomalny recesywny pierwotny Niedobór odporności ze spontanicznym defektem cytotoksyczności komórek NK"]},"cs":{"name":"Autozomálně recesivní primární imunodeficit s defektní spontánní cytotoxicitou NK buněk","synonyms":["Deficit CD16","Autozomálně recesivní primární imunodeficience s defektní spontánní cytotoxicitou natural killer buněk"]},"uk":{"name":"Аутосомно-рецесивний первинний імунодефіцит з дефектною спонтанною цитотоксичністю природних кілерів","synonyms":["Аутосомно-рецесивний первинний імунодефіцит з дефектною спонтанною цитотоксичністю NK-клітин","Дефіцит CD16"],"definition":"A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up."},"zh":{"name":"常染色体隐性遗传性原发性免疫缺陷伴有缺陷性NK细胞毒杀伤作用","synonyms":["CD16 缺乏"],"definition":"一种罕见的遗传性原发性免疫缺陷，其特征是反复出现呼吸道和皮肤病毒感染（埃伯斯坦-巴尔病毒，单纯疱疹病毒，人乳头瘤病毒），自然杀伤细胞的自发细胞毒性不足，但保留了抗体依赖性细胞的细胞毒性。免疫学检查没有其他异常。"},"tr":{"name":"Defektif doğal öldürücü hücre sitotoksisitesi ile seyreden otozomal resesif primer immün yetmezlik","synonyms":["Defektif spontan NK hücre sitotoksisitesi ile seyreden otozomal çekinik primer immün yetmezlik","CD16 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"615707","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680046","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]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"FCGR3A","name":"Fc fragment of IgG receptor IIIa","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23006327[PMID]","hgnc":"3619","ensembl":"ENSG00000203747","omim":"146740","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23006327[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23006327[PMID]"}],"phenotypes":null}