{"orpha":169095,"name":"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK+ SCID due to FOXN1 deficiency","Alymphoid cystic thymic dysgenesis","Nude/SCID","Nude/severe combined immunodeficiency","Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome","Winged helix deficiency"],"definition":"A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169095/","orphanet_url":"https://www.orpha.net/en/disease/detail/169095","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en FOXN1","synonyms":["Immunodéficience combinée sévère T-B+NK+ par déficit en FOXN1","DICS T-B+NK+ par déficit en FOXN1","Dysgénésie kystique alymphoïde du thymus","Syndrome d'immunodéficience sévère à cellules T-alopécie congénitale-dystrophie des ongles","Syndrome de déficit immunitaire sévère à cellules T-alopécie congénitale-dystrophie des ongles","SCID T-B+NK+ par déficit en FOXN1"],"definition":"Déficit immunitaire primaire rare d'origine génétique dû à un défaut de l'immunité adaptative caractérisé par la triade associant absence congénitale de thymus (résultant d'une immunodéficience sévère des cellules T), alopécie congénitale totale et dystrophie des ongles. Les patients présentent des infections néonatales ou infantiles, sévères et récurrentes, mettant en jeu le pronostic vital, et des taux de lymphocytes T circulants faibles ou nuls. Les autres caractéristiques rapportées sont une érythrodermie, une lymphoadénopathie, une diarrhée et un retard de croissance."},"de":{"name":"Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz","synonyms":["Schwerer T-Zell-Immundefekt-kongenitale Alopezie-Nageldystrophie-Syndrom","Winged-Helix-Defekt","Winged-Helix-Nude-Defekt","Alymphoide zystische Thymus-Dysgenesie","Nude/SCID","SCID durch FOXN1-Mangel"]},"es":{"name":"Inmunodeficiencia combinada grave por deficiencia de FOXN1","synonyms":["Deficiencia de la hélice alada","Disgenesia quística alinfoide del timo","IDCG por deficiencia de FOXN1","IDCG/linfocito desnudo","Inmunodeficiencia combinada grave/linfocito desnudo","Nude/SCID","SCID por deficiencia de FOXN1","Síndrome de inmunodeficiencia grave de linfocitos T-alopecia congénita-distrofia ungueal"],"definition":"Es una inmunodeficiencia primaria, genética y poco frecuente, debida a un defecto de la inmunidad adaptativa y caracterizada por la tríada de: atimia congénita (que resulta en inmunodeficiencia grave de células T), alopecia total congénita y distrofia ungueal. Los afectados presentan infecciones graves recurrentes, potencialmente mortales de inicio neonatal o en la lactancia, y células T circulantes bajas o ausentes. Otras características adicionales descritas incluyen eritrodermia, linfadenopatía, diarrea y fallo de medro."},"it":{"name":"Immunodeficienza combinata grave da deficit di FOXN1","synonyms":["Deficit \"winged helix\"","Deficit 'winged helix'","Disgenesia timica cistica alinfoide","SCID/nuda","Immunodeficienza combinata grave nuda","SCID da deficit di FOXN1","Sindrome immunodeficienza grave delle cellule T-alopecia congenita-distrofia ungueale","Disgenesia alinfoide cistica del timo"],"definition":"La disgenesia timica cistica alinfoide è un'immunodeficienza primitiva genetica rara, causata da un difetto dell'immunità adattativa. È caratterizzata dalla triade atimia congenita (con conseguente marcata immunodeficienza delle cellule T), alopecia completa congenita e distrofia ungueale. I pazienti presentano infezioni ricorrenti gravi e potenzialmente letali ad esordio neonatale o infantile, e livelli bassi o non rilevabili di cellule T circolanti. Altri segni clinici sono l'eritrodermia, la linfoadenopatia, la diarrea e il ritardo della crescita."},"nl":{"name":"Ernstige gecombineerde immuundeficiëntie door FOXN1-deficiëntie","synonyms":["Alymfoïde cystische thymusdysgenesie","Ernstige T-cel-immuundeficiëntie - congenitale alopecie - nageldystrofie-syndroom","Naakte/SCID","Naakte/ernstige gecombineerde immuundeficiëntie","SCID door FOXN1-deficiëntie","Winged helix-deficiëntie"],"definition":"Een zeldzame, genetische, primaire immuundeficiëntie ten gevolge van een defect van het verworven immuunsysteem, gekarakteriseerd door de triade van congenitale athymie (wat leidt tot ernstige T-cel-immuundeficiëntie), congenitale totale alopecie en nageldystrofie. Patiënten presenteren zich met neonataal of infantiel aanvangende, ernstige, terugkerende, levensbedreigende infecties en weinig of geen circulerende T-cellen. Bijkomende kenmerken die reeds werden gerapporteerd, zijn onder meer erytrodermie, lymfadenopathie, diarree en groeifalen."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de FOXN1","synonyms":["Imunodeficiência grave de células T-alopecia congénita-distrofia das unhas"]},"pl":{"name":"Ciężki złożony niedobór odporności spowodowany niedoborem FOXN1","synonyms":["Ciężki Niedobór odporności T-komórkowej - łysienie wrodzone - dystrofia paznokci","Niedobór skrzydlatej helisy"],"definition":"*Alimfoidalna torbielowata dysgenezja grasicy jest rzadkim, genetycznie uwarunkowanym, pierwotnym niedoborem odporności, wynikającym z defektu odporności adaptacyjnej, który charakteryzuje się triadą objawów: wrodzonym brakiem grasicy (skutkujący ciężkim niedoborem odporności zależnej od limfocytów T), wrodzonym całkowitym łysieniem i dystrofią paznokci. Choroba rozpoczyna się w okresie noworodkowym lub niemowlęcym ciężkimi, nawracającymi, zagrażającymi życiu infekcjami ze zmniejszeniem liczby krążących limfocytów T lub ich całkowitym brakiem. Dodatkowo opisywano erytrodermię, limfoadenopatię, biegunkę i brak prawidłowego rozwoju."},"cs":{"name":"Nelymfoidní cystická dysgeneze brzlíku","synonyms":["Deficience Winged Helix Nude","Syndrom zahrnující těžkou T-buněčnou imunodeficienci, vrozenou alopecii a dystrofii nehtů"]},"uk":{"name":"Тяжкий комбінований імунодефіцит, зумовлений дефіцитом FOXN1","synonyms":["Алімфоїдно-кістозна дисгенезія тимуса","Nude/SCID","Виражений/тяжкий комбінований імунодефіцит","ТКІД внаслідок дефіциту FOXN1","Синдром тяжкого Т-клітинного імунодефіциту - вродженої алопеції та дистрофії нігтів","Дефіцит крилатої спіралі"],"definition":"A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive."},"zh":{"name":"FOXN1缺乏所致重度联合免疫缺陷","synonyms":["严重T细胞免疫缺陷-先天性秃发-甲营养不良综合征"],"definition":"FOXN1基因缺陷所致严重联合免疫病是一种罕见遗传性的适应性免疫缺陷所致原发性免疫缺陷病，其主要临床表现为先天性无胸腺（导致严重的T细胞免疫缺陷），先天性脱发和指甲营养不良，常发生于新生儿期或婴儿期。患者出现严重反复性致命性感染和循环T细胞过少或缺乏，其他特征包括红皮病、淋巴瘤、腹泻和发育不良。"},"tr":{"name":"FOXN1 eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["Çıplak/SCID","Hızlı sarmal eksikliği","FOXN1 eksikliğine bağlı SCID","Alymphoid kistik timik disgenezi","Çıplak/ağır kombine immün yetmezlik","Ağır T hücre immün yetmezlik-doğumsal alopesi-tırnak distrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"17087877"},{"source":"MONDO","code":"0011132","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11132","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536781","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866426","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]},{"orpha":720280,"name":"T-B+NK+ severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"FOXN1","name":"forkhead box N1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10206641[PMID]","hgnc":"12765","ensembl":"ENSG00000109101","omim":"600838","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"28077132[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28077132[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005597","label":"Congenital alopecia totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001803","label":"Nail pits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Very frequent (99-80%)","criteria":null}]}}