{"Name":"Immune deficiency, familial variable","DiseaseID__c":"GARD:0002984","id":2984,"encodedName":"immune-deficiency-familial-variable","IsDeleted":false,"Disease_Name_Full__c":"Immune deficiency, familial variable","Xref_IDs__c":"C1840266; C564136; MEDGEN:374426; MONDO:0007814; OMIM:146830","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":"OMIM:146830","Disease_Description__c":"{2:Rosen and Bougas (1963)} reported the case of a woman with recurrent infection, marked elevation of 19S gamma globulin, and virtual absence of 7S. {1:Feldman et al. (1975)} found that 12 relatives had a variable immunodeficiency. Ten had elevation of IgM, combined with deficiency of IgG and IgA in 3 and deficiency of one or the other in 2. Five had only elevated IgM and 2 had normal IgM but deficiency of IgG and IgA. No male-to-male transmission was observed.","GARD_Name__c":"Immune deficiency, familial variable","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial variable immune deficiency is a condition where the body's immune system doesn't work properly. This can cause people to get sick more often. Symptoms can include high levels of a protein called IgM, and low levels of other proteins called IgG and IgA. Some people only have high levels of IgM. The condition runs in families and appears to follow an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:146830","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007814","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":"Familial variable immune deficiency is a condition where the body's immune system doesn't work properly. This can cause people to get sick more often. Symptoms can include high levels of a protein called IgM, and low levels of other proteins called IgG and IgA. Some people only have high levels of IgM. The condition runs in families and appears to follow an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Immune deficiency, familial variable","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/mesh/C564136","Source__c":"MONDO:0007814","Xref__c":"C564136"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840266","Source__c":"C1840266","Xref__c":"C1840266"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374426","Source__c":"C1840266","Xref__c":"MEDGEN:374426"},{"URL__c":"https://www.omim.org/entry/146830","Source__c":"C1840266; MONDO:0007814","Xref__c":"OMIM:146830"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007814","Source__c":"GARD:0002984","Xref__c":"MONDO:0007814"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:146830","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146830","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:146830","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:146830","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":[""]}