{"Name":"Inflammatory bowel disease-recurrent sinopulmonary infections syndrome","DiseaseID__c":"GARD:0022205","id":22205,"encodedName":"inflammatory-bowel-disease-recurrent-sinopulmonary-infections-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Inflammatory bowel disease-recurrent sinopulmonary infections syndrome","Xref_IDs__c":"C5568532; MEDGEN:1799955; MONDO:0033969; ORPHA:529980","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:529980","Disease_Description__c":"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.","GARD_Name__c":"Inflammatory bowel disease-recurrent sinopulmonary infections syndrome","GARD_Synonym__c":"inflammatory bowel disease, recurrent sinopulmonary infection syndrome; nfat5 (nuclear factor of activated t cells 5) haploinsufficiency; nfat5 haploinsufficiency","Curated_Disease_Description_Source__c":"ORPHA:529980","Curated_Disease_Description__c":"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:529980","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033969","ORPHANET_ID__c":"ORPHA:529980","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad inflamatoria intestinal-infecciones sinopulmonares recurrentes","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de enfermedad inflamatoria intestinal-infecciones sinopulmonares recurrentes","Spanish_GARD_Synonym__c":"haploinsuficiencia de nfat5","Category_Linearization__c":"ORPHA:97935","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":"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.","Curated_Disease_Description_Source__c":"ORPHA:529980","GARD_Synonym__c":"inflammatory bowel disease, recurrent sinopulmonary infection syndrome; nfat5 (nuclear factor of activated t cells 5) haploinsufficiency; nfat5 haploinsufficiency","Name":"Inflammatory bowel disease-recurrent sinopulmonary infections syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Crohn’s & Colitis Foundation","Website__c":"https://www.crohnscolitisfoundation.org/"},{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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:529980"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/529980","Source__c":"C5568532; MONDO:0033969; ORPHA:529980","Xref__c":"ORPHA:529980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799955","Source__c":"C5568532","Xref__c":"MEDGEN:1799955"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568532","Source__c":"C5568532","Xref__c":"C5568532"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033969","Source__c":"GARD:0022205","Xref__c":"MONDO:0033969"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186652002","Source__c":"C5568532","Xref__c":"1186652002"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["inflammatory bowel disease, recurrent sinopulmonary infection syndrome"," nfat5 (nuclear factor of activated t cells 5) haploinsufficiency"," nfat5 haploinsufficiency"]}