{"Name":"Combined immunodeficiency due to partial RAG1 deficiency","DiseaseID__c":"GARD:0013712","id":13712,"encodedName":"combined-immunodeficiency-due-to-partial-rag1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency due to partial RAG1 deficiency","Xref_IDs__c":"725290000; C1835931; C563691; MEDGEN:372161; MONDO:0012359; OMIM:609889; ORPHA:231154","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012359","Disease_Description__c":"Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.","GARD_Name__c":"Combined immunodeficiency due to partial RAG1 deficiency","GARD_Synonym__c":"cid due to partial rag1 deficiency; cid with expansion of gamma delta t cells; combined immunodeficiency with expansion of gamma delta t cells","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Combined immunodeficiency due to partial RAG1 deficiency is a type of combined T and B cell immunodeficiency. It is a rare genetic disorder that affects the immune system that results in severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. This condition can be diagnosed in babies and children and can lead to life-threatening problems with the immune system. It is caused by a problem in the RAG1 gene on  chromosome 11 and affects both males and females.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231154","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012359","ORPHANET_ID__c":"ORPHA:231154","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada por deficiencia parcial de rag1","Spanish_Description_Source__c":"ORPHA:231154","Spanish_Description__c":"La inmunodeficiencia combinada por déficit parcial de RAG1 es una forma de inmunodeficiencia combinada de linfocitos T y B (CID; consulte este término) caracterizada por una infección grave y persistente de citomegalovirus (CMV) y citopenia autoinmune.","Spanish_Disease_Name__c":"inmunodeficiencia combinada por deficiencia parcial de rag1","Spanish_GARD_Synonym__c":"idc con expasión de células t gamma delta; idc por deficiencia parcial de rag1; inmunodeficiencia combinada con expasión de células t gamma delta","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":"Combined immunodeficiency due to partial RAG1 deficiency is a type of combined T and B cell immunodeficiency. It is a rare genetic disorder that affects the immune system that results in severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. This condition can be diagnosed in babies and children and can lead to life-threatening problems with the immune system. It is caused by a problem in the RAG1 gene on  chromosome 11 and affects both males and females.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cid due to partial rag1 deficiency; cid with expansion of gamma delta t cells; combined immunodeficiency with expansion of gamma delta t cells","Name":"Combined immunodeficiency due to partial RAG1 deficiency","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":"Infancy","Provided_By__c":"ORPHA:231154"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231154"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013712","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725290000","Source__c":"MONDO:0012359","Xref__c":"725290000"},{"URL__c":"https://www.omim.org/entry/609889","Source__c":"C1835931; MONDO:0012359; ORPHA:231154","Xref__c":"OMIM:609889"},{"URL__c":"https://www.orpha.net/en/disease/detail/231154","Source__c":"C1835931; MONDO:0012359","Xref__c":"ORPHA:231154"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563691","Source__c":"MONDO:0012359","Xref__c":"C563691"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835931","Source__c":"C1835931","Xref__c":"C1835931"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372161","Source__c":"C1835931","Xref__c":"MEDGEN:372161"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012359","Source__c":"GARD:0013712","Xref__c":"MONDO:0012359"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rag1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004430","HPO_Synonym__c":"Immunodeficiency, severe combined","HPO_Name__c":"Severe combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001904","HPO_Synonym__c":"Neutropenia in presence of anti-neutropil antibodies","HPO_Name__c":"Autoimmune neutropenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006515","HPO_Name__c":"Interstitial pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:231154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autoimmune form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001890","HPO_Synonym__c":"Autoimmune haemolytic anemia; Hemolytic anemia, autoimmune","HPO_Name__c":"Autoimmune hemolytic anemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cid due to partial rag1 deficiency"," cid with expansion of gamma delta t cells"," combined immunodeficiency with expansion of gamma delta t cells"]}