{"orpha":34592,"name":"Immunodeficiency by defective expression of MHC class I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bare lymphocyte syndrome type 1","MHC class I deficiency"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34592/","orphanet_url":"https://www.orpha.net/en/disease/detail/34592","names":{"fr":{"name":"Déficit immunitaire par déficit d'expression des molécules CMH de classe I","synonyms":["Déficit en CMH de classe I","Immunodéficience par déficit d'expression des molécules CMH de classe I","Syndrome des lymphocytes dénudés type I"],"definition":"Déficit immunitaire primaire autosomique récessif rare caractérisé par une réduction marquée de l'expression des molécules HLA de classe I à la surface des cellules entraînant, généralement dans l'enfance, des infections bactériennes chroniques des voies respiratoires évoluant vers une bronchectasie généralisée et une insuffisance respiratoire. On peut observer chez certains patients des lésions cutanées granulomateuses nécrosantes stériles touchant principalement les membres et la partie médiane du visage. Les infections virales sévères ne font pas partie des symptômes. Des variants atypiques sans manifestations respiratoires ou cutanées, ainsi que des individus asymptomatiques ont été rapportés."},"de":{"name":"Immundefekt durch MHC Klasse I-Expressionsdefekt","synonyms":["BLS Typ 1","MHC Klasse I-Defizienz","Nackte-Lymphozyten-Syndrom Typ I"],"definition":"Ein seltener autosomal-rezessiver primärer Immundefekt, der durch eine stark verminderte Expression von HLA-Klasse-I-Molekülen auf der Zelloberfläche gekennzeichnet ist und typischerweise im Kindesalter zu chronischen bakteriellen Infektionen der Atemwege führt, die sich zu einer weit verbreiteten Bronchiektasie und Atemwegsinsuffizienz entwickeln. Bei einigen Patienten können sterile nekrotisierende granulomatöse Hautläsionen beobachtet werden, die hauptsächlich die Extremitäten und das Mittelgesicht betreffen. Schwere Virusinfektionen treten im Rahmen der Erkrankung nicht auf. Es wurde über atypische Varianten ohne respiratorische oder kutane Manifestationen sowie über asymptomatische Personen berichtet."},"es":{"name":"Inmunodeficiencia por expresión deficiente del CMH de clase I","synonyms":["Deficiencia de CMH de clase I","Síndrome del linfocito desnudo tipo 1"],"definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por una marcada disminución de la expresión de moléculas HLA de clase I en la superficie celular, que suele ocasionar la aparición de infecciones bacterianas crónicas del tracto respiratorio de inicio en la infancia que evolucionan a bronquiectasias generalizadas e insuficiencia respiratoria. En algunos pacientes se pueden observar lesiones cutáneas granulomatosas necrotizantes estériles que afectan principalmente a las extremidades y al tercio mediofacial. La afección no se manifiesta con infecciones virales graves. Se han descrito variantes atípicas sin manifestaciones respiratorias o cutáneas, así como individuos asintomáticos."},"it":{"name":"Immunodeficienza da deficit di espressione del complesso maggiore di istocompatibilità di classe I","synonyms":["Sindrome dei linfociti nudi, tipo 1"],"definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica recessiva, caratterizzata dalla marcata riduzione dell'espressione delle molecole HLA di classe I sulla superficie delle cellule, che di solito si associa ad infezioni batteriche croniche ad esordio infantile, che interessano le vie respiratorie ed evolvono verso la bronchiectasia diffusa e l'insufficienza respiratoria. Alcuni pazienti presentano lesioni cutanee granulomatose necrotizzanti sterili, per lo più localizzate sugli arti e sulla porzione media del viso. La malattia non si associa ad infezioni virali gravi. Sono state descritte varianti atipiche senza sintomi respiratori o cutanei, e pazienti asintomatici."},"nl":{"name":"Immuundeficiëntie door verstoorde expressie van MHC klasse I","synonyms":["MHC klasse I-deficiëntie","Naakt lymfocytsyndroom type 1"],"definition":"Een zeldzame autosomaal recessieve primaire immuundeficiëntie, gekarakteriseerd door ernstige reductie van expressie van HLA klasse I moleculen op het oppervlak van cellen, wat doorgaans leidt tot aanvang in de kindertijd van chronische bacteriële infecties van luchtwegen die evolueren tot wijdverspreide bronchiëctasie en respiratoire insufficiëntie. Steriele necrotiserende granulomateuze huidlaesies met hoofdzakelijk betrokkenheid van ledematen en middengezicht kunnen waargenomen worden bij sommige patiënten. Ernstige virale infecties maken geen deel uit van deze aandoening. Atypische varianten zonder respiratoire of cutane manifestaties, alsook asymptomatische individuen werden reeds gerapporteerd."},"pt":{"name":"Imunodeficiência por défice da expressão de MHC classe 1","synonyms":["Deficiência de MHC classe I"]},"pl":{"name":"Niedobór odporności z powodu wadliwej ekspresji HLA klasy 1","synonyms":["Bare lymphocyte syndrome type 1"]},"cs":{"name":"Imunodeficience s poruchou exprese HLA 1.třídy","synonyms":["Syndrom nahých lymfocytů, typ 1"]},"uk":{"name":"Імунодефіцит, зумовлений дефектною експресією MHC класу I","synonyms":["Синдром голих лімфоцитів, тип 1","Дефіцит MHC класу I"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported."},"zh":{"name":"MHC-I类分子表达缺陷所致免疫缺陷","synonyms":["裸淋巴细胞综合征1型"]},"tr":{"name":"MHC sınıf I'in defektine bağlı immün yetmezlik","synonyms":["MHC sınıf I eksikliği","Çıplak lenfosit sendromu tip 1"]}},"xrefs":[{"source":"OMIM","code":"241600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604571","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"489749747"},{"source":"MONDO","code":"0011476","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858266","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8427","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]},{"orpha":718072,"name":"Combined immunodeficiency with low CD8 and normal CD4","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"B2M","name":"beta-2-microglobulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25702838[PMID]","hgnc":"914","ensembl":"ENSG00000166710","omim":"109700","loci":["15q21.1"]},{"symbol":"TAP1","name":"transporter 1, ATP binding cassette subfamily B member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10074494[PMID]","hgnc":"43","ensembl":"ENSG00000168394","omim":"170260","loci":["6p21.32"]},{"symbol":"TAP2","name":"transporter 2, ATP binding cassette subfamily B member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10560675[PMID]","hgnc":"44","ensembl":"ENSG00000204267","omim":"170261","loci":["6p21.32"]},{"symbol":"TAPBP","name":"TAP binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12149238[PMID]","hgnc":"11566","ensembl":"ENSG00000231925","omim":"601962","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"25001848[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25001848[PMID]"}],"phenotypes":null}