{"Name":"Common variable immunodeficiency","DiseaseID__c":"GARD:0006140","id":6140,"encodedName":"common-variable-immunodeficiency","IsDeleted":false,"Disease_Name_Full__c":"Common variable immunodeficiency","Xref_IDs__c":"191010004; 23238000; C0009447; C26725; D017074; D83; DOID:12177; MEDGEN:40407; MONDO:0015517; OMIMPS:607594","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015517","Disease_Description__c":"Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.","GARD_Name__c":"Common variable immunodeficiency","GARD_Synonym__c":"common variable agammaglobulinemia; common variable hypogamma-globulinemia; common variable immune deficiency; cvid; cvid - common variable immunodeficiency; idiopathic immunoglobulin deficiency; primary antibody deficiency; primary hypogammaglobulinemia; secondary hypogammaglobulinemia; sporadic hypogammaglobulinemia","Curated_Disease_Description_Source__c":"GARD:0006140","Curated_Disease_Description__c":"Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood. There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1572","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015517","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:1572","Spanish_Description__c":"La inmunodeficiencia común variable (CVID, por sus siglas en inglés) engloba un grupo heterogéneo de enfermedades caracterizado por: hipogammaglobulinemia de causa desconocida, incapacidad para producir anticuerpos específicos tras inmunización y susceptibilidad a infecciones bacterianas, predominantemente las causadas por bacterias encapsuladas.","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":"Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood. There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.","Curated_Disease_Description_Source__c":"GARD:0006140","GARD_Synonym__c":"common variable agammaglobulinemia; common variable hypogamma-globulinemia; common variable immune deficiency; cvid; cvid - common variable immunodeficiency; idiopathic immunoglobulin deficiency; primary antibody deficiency; primary hypogammaglobulinemia; secondary hypogammaglobulinemia; sporadic hypogammaglobulinemia","Name":"Common variable immunodeficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española de Déficit Inmunitarios Primarios (AEDIP)","Website__c":"https://www.aedip.com/"},{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"Account_Name__c":"Canadian Immunodeficiencies Patient Organization","Website__c":"http://www.cipo.ca/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0009447"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3149378"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006140","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23238000","Source__c":"MONDO:0015517","Xref__c":"23238000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607594","Source__c":"MONDO:0015517","Xref__c":"OMIMPS:607594"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0009447","Source__c":"C0009447","Xref__c":"C0009447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=40407","Source__c":"C0009447","Xref__c":"MEDGEN:40407"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26725","Source__c":"C0009447; MONDO:0015517","Xref__c":"C26725"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017074","Source__c":"C0009447; MONDO:0015517","Xref__c":"D017074"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12177","Source__c":"MONDO:0015517","Xref__c":"DOID:12177"},{"URL__c":"https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency","Source__c":"GARD:0006140","Xref__c":"https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191010004","Source__c":"C0009447","Xref__c":"191010004"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D83","Source__c":"MONDO:0015517","Xref__c":"D83"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015517","Source__c":"GARD:0006140","Xref__c":"MONDO:0015517"}],"tags":{},"synonyms":["common variable agammaglobulinemia"," common variable hypogamma-globulinemia"," common variable immune deficiency"," cvid"," cvid - common variable immunodeficiency"," idiopathic immunoglobulin deficiency"," primary antibody deficiency"," primary hypogammaglobulinemia"," secondary hypogammaglobulinemia"," sporadic hypogammaglobulinemia"],"spanishId":13615,"spanishName":"inmunodeficiencia-comun-variable"}