{"Name":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","DiseaseID__c":"GARD:0017732","id":17732,"encodedName":"autosomal-recessive-primary-immunodeficiency-with-defective-spontaneous-natural-killer-cell-cytotoxicity","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","Xref_IDs__c":"C3810342; DOID:0111941; MEDGEN:816672; MONDO:0014313; OMIM:615707; ORPHA:437552","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":3,"Description_Source__c":"ORPHA:437552","Disease_Description__c":"A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.","GARD_Name__c":"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","GARD_Synonym__c":"autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity; cd16 deficiency; immunodeficiency 20; immunodeficiency type 20","Curated_Disease_Description_Source__c":"ORPHA:437552","Curated_Disease_Description__c":"A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:437552","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014313","ORPHANET_ID__c":"ORPHA:437552","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células natural killer","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células natural killer","Spanish_GARD_Synonym__c":"deficiencia de cd16; inmunodeficiencia primaria autosómica recesiva con citotoxicidad espontánea de las células nk defectuosa; inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células nk","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 characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.","Curated_Disease_Description_Source__c":"ORPHA:437552","GARD_Synonym__c":"autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity; cd16 deficiency; immunodeficiency 20; immunodeficiency type 20","Name":"Autosomal recessive primary immunodeficiency with defective spontaneous natural","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:437552"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:437552"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:437552"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615707","Source__c":"C3810342; MONDO:0014313; ORPHA:437552","Xref__c":"OMIM:615707"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810342","Source__c":"C3810342","Xref__c":"C3810342"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816672","Source__c":"C3810342","Xref__c":"MEDGEN:816672"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111941","Source__c":"MONDO:0014313","Xref__c":"DOID:0111941"},{"URL__c":"https://www.orpha.net/en/disease/detail/437552","Source__c":"C3810342; MONDO:0014313","Xref__c":"ORPHA:437552"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014313","Source__c":"GARD:0017732","Xref__c":"MONDO:0014313"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FCGR3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A recurrent form of sinusitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011108","HPO_Synonym__c":"Recurrent sinus infections; Sinusitis, recurrent","HPO_Name__c":"Recurrent sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032170","HPO_Name__c":"Severe varicella zoster infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040218","HPO_Synonym__c":"Reduced natural killer cell number; Reduced NK cell number","HPO_Name__c":"Reduced total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410028","HPO_Synonym__c":"Recurrent herpes labialis","HPO_Name__c":"Recurrent oral herpes","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033166","HPO_Name__c":"Recurrent viral upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020086","HPO_Name__c":"BCGitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615707","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal response of natural killer (NK) cells to stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012177","HPO_Synonym__c":"Abnormal NK cell physiology; Reduced natural killer cell activity","HPO_Name__c":"Abnormal natural killer cell physiology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity"," cd16 deficiency"," immunodeficiency 20"," immunodeficiency type 20"]}