{"Name":"MHC class I deficiency","DiseaseID__c":"GARD:0009548","id":9548,"encodedName":"mhc-class-i-deficiency","IsDeleted":false,"Disease_Name_Full__c":"MHC class I deficiency","Xref_IDs__c":"725136003; C171267; C1858266; DOID:0060009; MEDGEN:346868; MONDO:0011476; OMIMPS:604571; ORPHA:34592","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011476","Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.","GARD_Name__c":"MHC class I deficiency","GARD_Synonym__c":"bare lymphocyte syndrome type 1; bare lymphocyte syndrome type i; bls, type i; blsi; hla class i deficiency; immunodeficiency by defective expression of hla (human leukocyte antigen) class 1; immunodeficiency by defective expression of hla class 1; immunodeficiency by defective expression of hla class type 1; immunodeficiency by defective expression of human leukocyte antigen class 1; immunodeficiency by defective expression of human leukocyte antigen class i; immunodeficiency by defective expression of major histocompatibility complex class i; immunodeficiency by defective expression of mhc class i; major histocompatibility complex class i deficiency; mhc (major histocompatibility complex) class i deficiency","Curated_Disease_Description_Source__c":"MONDO:0011476","Curated_Disease_Description__c":"Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. Many people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. People with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011476","ORPHANET_ID__c":"ORPHA:34592","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por expresión deficiente del cmh de clase i","Spanish_Description_Source__c":"ORPHA:34592","Spanish_Description__c":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por una marcada disminución de la expresión de moléculas HLA de clase I en la superficie celular, que suele ocasionar la aparición de infecciones bacterianas crónicas del tracto respiratorio de inicio en la infancia que evolucionan a bronquiectasias generalizadas e insuficiencia respiratoria. En algunos pacientes se pueden observar lesiones cutáneas granulomatosas necrotizantes estériles que afectan principalmente a las extremidades y al tercio mediofacial. La afección no se manifiesta con infecciones virales graves. Se han descrito variantes atípicas sin manifestaciones respiratorias o cutáneas, así como individuos asintomáticos.","Spanish_Disease_Name__c":"inmunodeficiencia por expresión deficiente del cmh de clase i","Spanish_GARD_Synonym__c":"deficiencia de cmh de clase i; síndrome del linfocito desnudo tipo 1","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":"Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. Many people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. People with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.","Curated_Disease_Description_Source__c":"MONDO:0011476","GARD_Synonym__c":"bare lymphocyte syndrome type 1; bare lymphocyte syndrome type i; bls, type i; blsi; hla class i deficiency; immunodeficiency by defective expression of hla (human leukocyte antigen) class 1; immunodeficiency by defective expression of hla class 1; immunodeficiency by defective expression of hla class type 1; immunodeficiency by defective expression of human leukocyte antigen class 1; immunodeficiency by defective expression of human leukocyte antigen class i; immunodeficiency by defective expression of major histocompatibility complex class i; immunodeficiency by defective expression of mhc class i; major histocompatibility complex class i deficiency; mhc (major histocompatibility complex) class i deficiency","Name":"MHC class I deficiency","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:34592"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858266","Source__c":"C1858266","Xref__c":"C1858266"},{"URL__c":"https://www.orpha.net/en/disease/detail/34592","Source__c":"C1858266; MONDO:0011476; ORPHA:34592","Xref__c":"ORPHA:34592"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725136003","Source__c":"C1858266; MONDO:0011476","Xref__c":"725136003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060009","Source__c":"MONDO:0011476","Xref__c":"DOID:0060009"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604571","Source__c":"MONDO:0011476","Xref__c":"OMIMPS:604571"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346868","Source__c":"C1858266","Xref__c":"MEDGEN:346868"},{"URL__c":"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-i","Source__c":"GARD:0009548","Xref__c":"https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-i"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011476","Source__c":"GARD:0009548","Xref__c":"MONDO:0011476"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C171267","Source__c":"C1858266","Xref__c":"C171267"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TAP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tap2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"B2M","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TAPBP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["bare lymphocyte syndrome type 1"," bare lymphocyte syndrome type i"," bls, type i"," blsi"," hla class i deficiency"," immunodeficiency by defective expression of hla (human leukocyte antigen) class 1"," immunodeficiency by defective expression of hla class 1"," immunodeficiency by defective expression of hla class type 1"," immunodeficiency by defective expression of human leukocyte antigen class 1"," immunodeficiency by defective expression of human leukocyte antigen class i"," immunodeficiency by defective expression of major histocompatibility complex class i"," immunodeficiency by defective expression of mhc class i"," major histocompatibility complex class i deficiency"," mhc (major histocompatibility complex) class i deficiency"]}