{"Name":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","DiseaseID__c":"GARD:0017711","id":17711,"encodedName":"primary-immunodeficiency-with-post-measles-mumps-rubella-vaccine-viral-infection","IsDeleted":false,"Disease_Name_Full__c":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","Xref_IDs__c":"C4225260; DOID:0111975; MEDGEN:904009; MONDO:0014715; OMIM:616636; ORPHA:431166","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014715","Disease_Description__c":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","GARD_Name__c":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","GARD_Synonym__c":"imd44; immunodeficiency 44; immunodeficiency type 44; primary immunodeficiency with post-mmr vaccine viral infection","Curated_Disease_Description_Source__c":"MONDO:0014715","Curated_Disease_Description__c":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:431166","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014715","ORPHANET_ID__c":"ORPHA:431166","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia primaria con infección viral post- vacunación sarampión-paperas-rubéola","Spanish_Description_Source__c":"ORPHA:431166","Spanish_Description__c":"La inmunodeficiencia primaria con infección viral post-vacunación sarampión-paperas-rubéola, es una inmunodeficiencia primaria poco frecuente debida a un defecto en la inmunidad innata caracterizado por susceptibilidad selectiva a infecciones virales, particularmente después de un compromiso sistémico con vacunas virales vivas, tales como la vacuna contra el sarampión, las paperas y la rubéola (MMR). Los afectados presentan manifestaciones graves y potencialmente mortales de enfermedad viral, incluyendo encefalitis, hepatitis y neumonitis.","Spanish_Disease_Name__c":"inmunodeficiencia primaria con infección viral post- vacunación sarampión-paperas-rubéola","Spanish_GARD_Synonym__c":"inmunodeficiencia primaria con infección viral post-spr","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":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.","Curated_Disease_Description_Source__c":"MONDO:0014715","GARD_Synonym__c":"imd44; immunodeficiency 44; immunodeficiency type 44; primary immunodeficiency with post-mmr vaccine viral infection","Name":"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","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:431166"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616636","Source__c":"C4225260; MONDO:0014715","Xref__c":"OMIM:616636"},{"URL__c":"https://www.orpha.net/en/disease/detail/431166","Source__c":"C4225260; MONDO:0014715","Xref__c":"ORPHA:431166"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225260","Source__c":"C4225260","Xref__c":"C4225260"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111975","Source__c":"MONDO:0014715","Xref__c":"DOID:0111975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=904009","Source__c":"C4225260","Xref__c":"MEDGEN:904009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014715","Source__c":"GARD:0017711","Xref__c":"MONDO:0014715"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STAT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Very frequent (80-99%)","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:616636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unusually severe viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031691","HPO_Name__c":"Severe viral infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020088","HPO_Synonym__c":"Vaccine associated measles","HPO_Name__c":"Post-vaccination measles","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616636","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of neopterin in the cerebrospinal fluid (CSF).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040204","HPO_Name__c":"Elevated CSF neopterin level","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["imd44"," immunodeficiency 44"," immunodeficiency type 44"," primary immunodeficiency with post-mmr vaccine viral infection"]}