{"Name":"T-cell immunodeficiency with epidermodysplasia verruciformis","DiseaseID__c":"GARD:0017483","id":17483,"encodedName":"t-cell-immunodeficiency-with-epidermodysplasia-verruciformis","IsDeleted":false,"Disease_Name_Full__c":"T-cell immunodeficiency with epidermodysplasia verruciformis","Xref_IDs__c":"770785002; C4749500; MEDGEN:1648416; MONDO:0017925; OMIM:618307; ORPHA:324294","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017925","Disease_Description__c":"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.","GARD_Name__c":"T-cell immunodeficiency with epidermodysplasia verruciformis","GARD_Synonym__c":"t-cell immunodeficiency due to ras homolog family member h deficiency; t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency; t-cell immunodeficiency due to rhoh deficiency","Curated_Disease_Description_Source__c":"MONDO:0017925","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:324294","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017925","ORPHANET_ID__c":"ORPHA:324294","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia de células t con epidermodisplasia verruciforme","Spanish_Description_Source__c":"ORPHA:324294","Spanish_Description__c":"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''.","Spanish_Disease_Name__c":"inmunodeficiencia de células t con epidermodisplasia verruciforme","Spanish_GARD_Synonym__c":"inmunodeficiencia de células t por deficiencia de rhoh","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0017925","GARD_Synonym__c":"t-cell immunodeficiency due to ras homolog family member h deficiency; t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency; t-cell immunodeficiency due to rhoh deficiency","Name":"T-cell immunodeficiency with epidermodysplasia verruciformis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:324294"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749500","Source__c":"C4749500","Xref__c":"C4749500"},{"URL__c":"https://www.orpha.net/en/disease/detail/324294","Source__c":"C4749500; MONDO:0017925; ORPHA:324294","Xref__c":"ORPHA:324294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648416","Source__c":"C4749500","Xref__c":"MEDGEN:1648416"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770785002","Source__c":"C4749500","Xref__c":"770785002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017925","Source__c":"GARD:0017483","Xref__c":"MONDO:0017925"},{"URL__c":"https://www.omim.org/entry/618307","Source__c":"ORPHA:324294","Xref__c":"OMIM:618307"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RHOH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032215","HPO_Name__c":"Disseminated cutaneous warts","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002097","HPO_Synonym__c":"Pulmonary emphysema","HPO_Name__c":"Emphysema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010280","HPO_Synonym__c":"Inflammation of the mouth","HPO_Name__c":"Stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030080","HPO_Name__c":"Burkitt lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031514","HPO_Name__c":"Increased proportion of exhausted T cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001041","HPO_Synonym__c":"Blushed cheeks; Blushing; Red face; Red in the face","HPO_Name__c":"Facial erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["t-cell immunodeficiency due to ras homolog family member h deficiency"," t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency"," t-cell immunodeficiency due to rhoh deficiency"]}