{"Name":"Immunodeficiency 79","DiseaseID__c":"GARD:0009523","id":9523,"encodedName":"immunodeficiency-79","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency 79","Xref_IDs__c":"C5543220; DOID:0112277; MEDGEN:1783683; MONDO:0030981; OMIM:619238","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Immunodeficiency 79","GARD_Synonym__c":"cd4 deficiency; imd79","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0030981","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells.","GARD_Synonym__c":"cd4 deficiency; imd79","Name":"Immunodeficiency 79","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1783683","Source__c":"C5543220","Xref__c":"MEDGEN:1783683"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112277","Source__c":"MONDO:0030981","Xref__c":"DOID:0112277"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5543220","Source__c":"C5543220","Xref__c":"C5543220"},{"URL__c":"https://www.omim.org/entry/619238","Source__c":"C5543220; MONDO:0030981","Xref__c":"OMIM:619238"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0030981","Source__c":"GARD:0009523","Xref__c":"MONDO:0030981"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:619238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619238","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:619238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033004","HPO_Name__c":"Palmar warts","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619238","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033005","HPO_Name__c":"Plantar warts","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cd4 deficiency"," imd79"]}