{"Name":"Immunodeficiency 33","DiseaseID__c":"GARD:0012915","id":12915,"encodedName":"immunodeficiency-33","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency 33","Xref_IDs__c":"C1970879; C536289; DOID:0112003; MEDGEN:370376; MONDO:0010386; OMIM:300636","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010386","Disease_Description__c":"Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.","GARD_Name__c":"Immunodeficiency 33","GARD_Synonym__c":"ikbkg invasive pneumococcal disease, recurrent isolated; ikbkg x-linked mendelian susceptibility to mycobacterial diseases; imd33; immunodeficiency 33, mycobacteriosis, x-linked; immunodeficiency 33, x-linked recessive; immunodeficiency type 33; immunodeficiency without anhidrotic ectodermal dysplasia; immunodeficiency, isolated; immunodeficiency, pure; invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg; invasive pneumococcal disease, recurrent isolated, 2; invasive pneumococcal disease, recurrent isolated, type 2; ipd2; x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg; x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency; x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency; x-linked msmd due to ikbkg deficiency; x-linked msmd due to nemo deficiency","Curated_Disease_Description_Source__c":"MONDO:0010386","Curated_Disease_Description__c":"Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:319612","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010386","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.","Curated_Disease_Description_Source__c":"MONDO:0010386","GARD_Synonym__c":"ikbkg invasive pneumococcal disease, recurrent isolated; ikbkg x-linked mendelian susceptibility to mycobacterial diseases; imd33; immunodeficiency 33, mycobacteriosis, x-linked; immunodeficiency 33, x-linked recessive; immunodeficiency type 33; immunodeficiency without anhidrotic ectodermal dysplasia; immunodeficiency, isolated; immunodeficiency, pure; invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg; invasive pneumococcal disease, recurrent isolated, 2; invasive pneumococcal disease, recurrent isolated, type 2; ipd2; x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg; x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency; x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency; x-linked msmd due to ikbkg deficiency; x-linked msmd due to nemo deficiency","Name":"Immunodeficiency 33","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1970879"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012915","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970879","Source__c":"C1970879","Xref__c":"C1970879"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370376","Source__c":"C1970879","Xref__c":"MEDGEN:370376"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112003","Source__c":"MONDO:0010386","Xref__c":"DOID:0112003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536289","Source__c":"MONDO:0010386","Xref__c":"C536289"},{"URL__c":"https://www.omim.org/entry/300636","Source__c":"C1970879; MONDO:0010386","Xref__c":"OMIM:300636"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010386","Source__c":"GARD:0012915","Xref__c":"MONDO:0010386"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IKBKG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ikbkg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000698","HPO_Synonym__c":"Cone shaped tooth; Conoid tooth; Peg shaped teeth; Peg tooth; Peg-shaped teeth; Shark tooth","HPO_Name__c":"Conical tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300636","Feature__r":{"HPO_Description__c":"An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032283","HPO_Name__c":"Disseminated nontuberculous mycobacterial infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Very frequent (80-99%)","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:300636","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020102","HPO_Synonym__c":"Pneumocystis carinii pneumonia","HPO_Name__c":"Pneumocystis jirovecii pneumonia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300636","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin A in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003261","HPO_Synonym__c":"Elevated IgA; Elevated serum IgA; IgA hypergammaglobulinemia; Increased circulating IgA level; Increased levels of IgA; Increased serum IgA","HPO_Name__c":"Increased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["ikbkg invasive pneumococcal disease, recurrent isolated"," ikbkg x-linked mendelian susceptibility to mycobacterial diseases"," imd33"," immunodeficiency 33, mycobacteriosis, x-linked"," immunodeficiency 33, x-linked recessive"," immunodeficiency type 33"," immunodeficiency without anhidrotic ectodermal dysplasia"," immunodeficiency, isolated"," immunodeficiency, pure"," invasive pneumococcal disease, recurrent isolated caused by mutation in ikbkg"," invasive pneumococcal disease, recurrent isolated, 2"," invasive pneumococcal disease, recurrent isolated, type 2"," ipd2"," x-linked mendelian susceptibility to mycobacterial diseases caused by mutation in ikbkg"," x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency"," x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency"," x-linked msmd due to ikbkg deficiency"," x-linked msmd due to nemo deficiency"]}