{"orpha":572,"name":"Immunodeficiency by defective expression of MHC class II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bare lymphocyte syndrome type 2","MHC class II deficiency"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572/","orphanet_url":"https://www.orpha.net/en/disease/detail/572","names":{"fr":{"name":"Déficit immunitaire par déficit d'expression des molécules CMH de classe II","synonyms":["Déficit en CMH de classe II","Immunodéficience par déficit d'expression des molécules CMH de classe II","Syndrome des lymphocytes dénudés type 2"],"definition":"Déficit immunitaire primaire autosomique récessif rare caractérisé par un défaut d'expression des molécules HLA de classe II à la surface des cellules immunitaires, entraînant une altération sévère de la réponse immunitaire cellulaire et humorale aux antigènes étrangers, une lymphopénie T CD4+ sévère et une hypogammaglobulinémie. Sur le plan clinique, la maladie se manifeste par l'apparition précoce d'infections sévères et récurrentes, principalement des voies respiratoires et gastro-intestinales, par une diarrhée persistante accompagnée d'un retard de croissance staturo-pondérale et par une maladie auto-immune ; elle est souvent létale dans l'enfance."},"de":{"name":"Immundefekt durch MHC Klasse II-Expressionsdefekt","synonyms":["Haupthistokompatibilitäts-Komplex-Klasse-II-Expressionsdefekt","MHC Klasse II-Defizienz","Nackte-Lymphozyten-Syndrom Typ II"],"definition":"Ein seltener autosomal-rezessiver primärer Immundefekt, der durch das Fehlen von HLA-Klasse-II-Molekülen auf der Oberfläche von Immunzellen gekennzeichnet ist und zu einer stark beeinträchtigten zellulären und humoralen Immunantwort auf fremde Antigene, einer schweren CD4+ T-Zell-Lymphopenie und einer Hypogammaglobulinämie führt. Klinisch äußert sich die Krankheit durch früh einsetzende schwere und wiederkehrende Infektionen vor allem des Atemwegs und des Magen-Darm-Trakts, langwierige Durchfälle mit Gedeihstörung und Autoimmunerkrankungen, die im Kindesalter häufig tödlich verlaufen."},"es":{"name":"Inmunodeficiencia por déficit de expresión del CMH de clase II","synonyms":["Deficiencia de CMH de clase II","Síndrome del linfocito desnudo tipo 2"],"definition":"Es una inmunodeficiencia primaria genética y poco frecuente caracterizada por la ausencia parcial o completa de moléculas HLA de clase II en la superficie de las células del sistema inmunitario, lo que produce un defecto grave en la respuesta inmunitaria, tanto celular como humoral, a los antígenos extraños, grave linfopenia de células T CD4+ e hipogammaglobulinemia. El trastorno se manifiesta clínicamente con la aparición precoz de infecciones graves y recurrentes, principalmente del tracto respiratorio y gastrointestinal, diarrea persistente con fallo de medro y enfermedad autoinmune. Suele ser fatal en la infancia."},"it":{"name":"Immunodeficienza da deficit di espressione del complesso maggiore di istocompatibilità di classe II","synonyms":["Immunodeficienza combinata grave da deficit di espressione delle molecole HLA di classe 2","Sindrome dei linfociti nudi, tipo 2"],"definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica recessiva, caratterizzata dall'assenza delle molecole HLA di classe II sulla superficie delle cellule immunitarie, che causa una grave compromissione della risposta immune cellulare e umorale agli antigeni estranei, linfopenia grave dei linfociti T CD4+ e l'ipogammaglobulinemia. Dal punto di vista clinico, la malattia si manifesta con infezioni gravi e ricorrenti ad esordio precoce, che interessano prevalentemente le vie respiratorie e il tratto gastrointestinale, diarrea protratta associata al ritardo della crescita, e malattie autoimmuni. Spesso la malattia è letale nell'infanzia."},"nl":{"name":"Immuundeficiëntie door verstoorde expressie van MHC klasse II","synonyms":["MHC klasse II-deficiëntie","Naakt lymfocytsyndroom type 2"],"definition":"Een zeldzame autosomaal recessieve primaire immuundeficiëntie, gekarakteriseerd door afwezigheid van HLA klasse II moleculen op het oppervlak van immuuncellen, wat leidt tot ernstig verstoorde cellulaire en humorale immuunrespons tegen vreemde antigenen, ernstige lymfopenie van CD4+ T-cellen, en hypogammaglobulinemie. Klinisch manifesteert de ziekte zich met vroege aanvang van ernstige en recidiverende infecties van hoofdzakelijk luchtwegen en maag-darmstelsel, geprotraheerde (langdurige) diarree met groeifalen, en auto-immuunziekte. Vaak is de aandoening fataal in de kindertijd."},"pt":{"name":"Imunodeficiência por expressão deficiente de HLA classe 2","synonyms":["Deficiência de MHC classe II","Síndrome linfócitos desnudos tipo 2"]},"pl":{"name":"Niedobór odporności z powodu wadliwej ekspresji HLA klasy 2","synonyms":["Ciężki złożony Niedobór odporności HLA klasy 2","Zespół nagich limfocytów typu 2"]},"cs":{"name":"Imunodeficience způsobená poruchou exprese HLA 2. třídy","synonyms":["Syndrom nahých lymfocytů, typ 2","HLA 2. třídy-negativní těžký kombinovaný imunodeficit"]},"uk":{"name":"Імунодефіцит, зумовлений дефектом експресії MHC класу II","synonyms":["Синдром голих лімфоцитів, тип 2","Дефіцит MHC класу II"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood."},"zh":{"name":"MHC II表达缺陷所致免疫缺陷","synonyms":["裸淋巴细胞综合征2型"]},"tr":{"name":"MHC sınıf II'nin defektif ifadesi ile immün yetmezlik","synonyms":["MHC sınıf II eksikliği","Çıplak lenfosit sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"209920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.7","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2021339495"},{"source":"MONDO","code":"0008855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931418","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"824","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":94075,"name":"Severe immune-mediated enteropathy","classifications":[152]}],"children":[],"genes":[{"symbol":"CIITA","name":"class II major histocompatibility complex transactivator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7067","ensembl":"ENSG00000179583","omim":"600005","loci":["16p13.13"]},{"symbol":"RFX5","name":"regulatory factor X5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9986","ensembl":"ENSG00000143390","omim":"601863","loci":["1q21.3"]},{"symbol":"RFXANK","name":"regulatory factor X associated ankyrin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9987","ensembl":"ENSG00000064490","omim":"603200","loci":["19p13.11"]},{"symbol":"RFXAP","name":"regulatory factor X associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9988","ensembl":"ENSG00000133111","omim":"601861","loci":["13q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":179.0,"area":"Worldwide","status":"Validated","source":"27510876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-18","source":"25001848[PMID]_28676232[PMID]_26634365[PMID]","terms":[{"hpo":"HP:0031390","label":"Reduced MHC II surface expression","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005354","label":"Lack of T cell function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005368","label":"Abnormality of humoral immunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200124","label":"Chronic hepatitis due to cryptosporidium infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025347","label":"Decreased circulating beta-2-microglobulin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002726","label":"Recurrent Staphylococcus aureus infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005386","label":"Recurrent protozoan infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031394","label":"Abnormal CD4:CD8 ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000371","label":"Acute otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003139","label":"Panhypogammaglobulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very rare (<4-1%)","criteria":null}]}}