{"orpha":324294,"name":"T-cell immunodeficiency with epidermodysplasia verruciformis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-cell immunodeficiency due to RHOH deficiency"],"definition":"A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324294/","orphanet_url":"https://www.orpha.net/en/disease/detail/324294","names":{"fr":{"name":"Déficit immunitaire à cellules T avec épidermodysplasie verruciforme","synonyms":["Déficit immunitaire à cellules T par déficit en RHOH"],"definition":"Déficit immunitaire primaire rare caractérisé par une susceptibilité accrue à l'infection à papillomavirus humain, se manifestant dans l'enfance par des lésions cutanées disséminées, ressemblant à des verrues planes. Le lymphome de Burkitt a également été rapporté. Alors que le nombre total de lymphocytes T est normal, on observe une altération de la signalisation du TCR, une lymphopénie profonde pour les lymphocytes T naïfs périphériques et les lymphocytes T mémoire, le phénotype de ces derniers étant par ailleurs « épuisé »."},"de":{"name":"T-Zell-Immundefekt mit Epidermodysplasia verruciformis","synonyms":["T-Zell-Immundefekt durch RHOH-Mangel"]},"es":{"name":"Inmunodeficiencia de células T con epidermodisplasia verruciforme","synonyms":["Inmunodeficiencia de células T por deficiencia de RHOH"],"definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por una mayor susceptibilidad a la infección por el virus del papiloma humano, que se presenta en la infancia con lesiones cutáneas planas diseminadas similares a verrugas. También se ha descrito linfoma de Burkitt. Mientras que el recuento total de células T es normal, existe una señalización alterada a través del TCR, marcada linfopenia de células T periféricas virgen, con linfocitos T de memoria que muestran un fenotipo ''agotado''."},"it":{"name":"Immunodeficienza delle cellule T con epidermodisplasia verruciforme","synonyms":["Immunodeficienza a cellule T da deficit di RHOH"],"definition":"L'immunodeficienza delle cellule T con epidermodisplasia verruciforme è un'immunodeficienza primitiva rara, caratterizzata da suscettibilità all'infezione da papillomavirus umano, che esordisce nell'infanzia con lesioni cutanee disseminate piatte simili a condilomi. Può associarsi al linfoma di Burkitt. Mentre il numero totale dei linfociti T è normale, si osservano anomalie del segnale del TCR, linfopenia grave delle cellule T naïve periferiche, con cellule T della memoria che mostrano un fenotipo di esaurimento."},"nl":{"name":"T-cel-immuundeficiëntie met epidermodysplasia verruciformis","synonyms":["T-cel-immuundeficiëntie door RHOH-deficiëntie"],"definition":"Een zeldzame, primaire immuundeficiëntie, gekarakteriseerd door verhoogde vatbaarheid voor infectie door humaan papillomavirus, en zich presenterend in de kindertijd met verspreide, vlakke, wrat-achtige huidletsels. Burkitt-lymfoom werd ook reeds gerapporteerd. Terwijl het totale aantal T-cellen normaal is, is de TCR-signalering verstoord en is er diepe lymfopenie van perifere naïeve T-cellen met T-geheugencellen die een fenotype van uitputting vertonen."},"pt":{"name":"Imunodeficiência de células T com epidermodisplasia verruciforme"},"pl":{"name":"Niedobór odporności T-komórkowej z nabłonkową dysplazją brodawkowatą","synonyms":["Niedobór odporności T-komórkowej z powodu deficytu RHOH"],"definition":"*Niedobór odporności T-komórkowej z nabłonkową dysplazją brodawkowatą (inne nazwy: dysplazja Lewandowsky'ego-Lutza, zespół Człowieka Drzewa) jest rzadkim, pierwotnym niedoborem odporności, który charakteryzuje się zwiększoną podatnością na zakażenie wirusem brodawczaka ludzkiego. Objawy choroby pojawiają się w dzieciństwie, mają postać rozsianych, płaskich, brodawkowatych zmian skórnych. Opisywano również występowanie chłoniaka Burkitta. Na całość fenotypu chorobowego składa się prawidłowa całkowita liczba komórek T, upośledzona sygnalizacja TCR oraz głęboka obwodowa limfopenia, dotycząca komórek T oraz komórek T pamięci immunologicznej."},"cs":{"name":"T-buněčná imunodeficience s epidermodysplasia verruciformis","synonyms":["T-buněčná imunodeficience způsobená RHOH deficitem"]},"uk":{"name":"Т-клітинний імунодефіцит з веррукоподібною епідермодисплазією","synonyms":["Т-клітинний імунодефіцит, спричинений дефіцитом RHOH"],"definition":"A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype."},"zh":{"name":"T细胞免疫缺陷伴疣状表皮发育不良","synonyms":["RHOH缺陷所致T细胞免疫缺陷"],"definition":"一种罕见的原发性免疫缺陷，其特征是对人乳头瘤病毒的易感性增加，在儿童时期表现为播散性扁平疣样皮肤病变。Burkitt淋巴瘤也有报道。虽然T细胞总数正常，但存在TCR信号受损，严重的外周幼稚T淋巴细胞减少，记忆T细胞呈现衰竭表型。"},"tr":{"name":"Epidermodisplazi verruciformis ile seyreden T hücre immün yetmezliği","synonyms":["RHOH eksikliğine bağlı T hücre immün yetmezliği"]}},"xrefs":[{"source":"OMIM","code":"618307","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749500","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718079,"name":"Combined immunodeficiency with normal B cells and normal immunoglubulins","classifications":[156,195,233]},{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]}],"children":[],"genes":[{"symbol":"RHOH","name":"ras homolog family member H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22850876[PMID]","hgnc":"686","ensembl":"ENSG00000168421","omim":"602037","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22850876[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}