{"Name":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","DiseaseID__c":"GARD:0021747","id":21747,"encodedName":"autosomal-recessive-severe-congenital-neutropenia-due-to-cxcr2-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","Xref_IDs__c":"783200000; C5190862; MEDGEN:1682018; MONDO:0018487; OMIM:619407; ORPHA:420699","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:420699","Disease_Description__c":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2<i/>.","GARD_Name__c":"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency","GARD_Synonym__c":"autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency; autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency","Curated_Disease_Description_Source__c":"ORPHA:420699","Curated_Disease_Description__c":"A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.","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:420699","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018487","ORPHANET_ID__c":"ORPHA:420699","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neutropenia congénita grave autosómica recesiva por deficiencia en cxcr2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neutropenia congénita grave autosómica recesiva por deficiencia en cxcr2","Spanish_GARD_Synonym__c":null,"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":"A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.","Curated_Disease_Description_Source__c":"ORPHA:420699","GARD_Synonym__c":"autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency; autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency","Name":"Autosomal recessive severe congenital neutropenia due to CXCR2 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/"},{"Account_Name__c":"National Neutropenia Network","Website__c":"https://neutropenianet.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":"Neonatal","Provided_By__c":"ORPHA:420699"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:420699"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190862","Source__c":"C5190862","Xref__c":"C5190862"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1682018","Source__c":"C5190862","Xref__c":"MEDGEN:1682018"},{"URL__c":"https://www.orpha.net/en/disease/detail/420699","Source__c":"C5190862; MONDO:0018487; ORPHA:420699","Xref__c":"ORPHA:420699"},{"URL__c":"https://www.omim.org/entry/619407","Source__c":"ORPHA:420699","Xref__c":"OMIM:619407"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018487","Source__c":"GARD:0021747","Xref__c":"MONDO:0018487"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783200000","Source__c":"C5190862","Xref__c":"783200000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CXCR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:619407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034284","HPO_Name__c":"Recurrent gingivitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619407","HPO_Frequency__c":"Very frequent (80-99%)","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, which persists for 3 or more months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410252","HPO_Synonym__c":"Chronic neutropenia","HPO_Name__c":"Persistently decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired egress of mature neutrophils from bone marrow causing neutropenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031160","HPO_Name__c":"Myelokathexis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:619407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032169","HPO_Synonym__c":"Unusual course of infection","HPO_Name__c":"Severe infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency"," autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency"]}