{"Name":"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome","DiseaseID__c":"GARD:0022273","id":22273,"encodedName":"cebpe-associated-autoinflammation-immunodeficiency-neutrophil-dysfunction-syndrome","IsDeleted":false,"Disease_Name_Full__c":"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome","Xref_IDs__c":"C5568564; MEDGEN:1799987; MONDO:0035437; ORPHA:566067","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0035437","Disease_Description__c":"A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.","GARD_Name__c":"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome","GARD_Synonym__c":"cain; cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome; ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome; cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome","Curated_Disease_Description_Source__c":"MONDO:0035437","Curated_Disease_Description__c":"A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Teenager","SourceID__c":"ORPHA:566067","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035437","ORPHANET_ID__c":"ORPHA:566067","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome autoinflamatorio-inmunodeficiencia-disfunción neutrofílica asociado a cebpe","Spanish_Description_Source__c":"ORPHA:566067","Spanish_Description__c":"Es un síndrome autoinflamatorio con inmunodeficiencia de origen genético poco frecuente caracterizado por una combinación de autoinflamación, inmunodeficiencia y disfunción neutrofílica, así como diátesis hemorrágica leve. Los pacientes se presentan con ataques recurrentes de dolor abdominal, fiebre alta e inflamación sistémica que duran de cuatro a cinco días, apareciendo cada pocas semanas. Los ataques pueden ir acompañados de abscesos en el lecho ungueal, la lengua, los glúteos y submandibulares, granulomas intra-abdominales, pioderma gangrenoso y úlceras bucales. También se han descrito episodios frecuentes de paroniquia purulenta, infecciones superficiales en la piel y las mucosas e infecciones purulentas del tracto respiratorio superior.","Spanish_Disease_Name__c":"síndrome autoinflamatorio-inmunodeficiencia-disfunción neutrofílica asociado a cebpe","Spanish_GARD_Synonym__c":"cain","Category_Linearization__c":"ORPHA:98023","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 autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0035437","GARD_Synonym__c":"cain; cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome; ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome; cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome","Name":"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndro","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Neonatal","Provided_By__c":"ORPHA:566067"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:566067"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799987","Source__c":"C5568564","Xref__c":"MEDGEN:1799987"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568564","Source__c":"C5568564","Xref__c":"C5568564"},{"URL__c":"https://www.orpha.net/en/disease/detail/566067","Source__c":"C5568564; MONDO:0035437; ORPHA:566067","Xref__c":"ORPHA:566067"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186720006","Source__c":"C5568564","Xref__c":"1186720006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035437","Source__c":"GARD:0022273","Xref__c":"MONDO:0035437"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CEBPE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cain"," cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome"," ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome"," cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome"]}