{"Name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","DiseaseID__c":"GARD:0010984","id":10984,"encodedName":"mendelian-susceptibility-to-mycobacterial-diseases-due-to-complete-il12rb1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","Xref_IDs__c":"C176800; C4013949; DOID:0111990; MEDGEN:862386; MONDO:0013955; OMIM:614891; ORPHA:319552","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013955","Disease_Description__c":"Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.","GARD_Name__c":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","GARD_Synonym__c":"autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1; il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; il12rb1 deficiency; immunodeficiency 30; immunodeficiency type 30; mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; msmd due to complete il12rb1 deficiency; msmd due to complete interleukin 12 receptor beta 1 deficiency","Curated_Disease_Description_Source__c":"MONDO:0013955","Curated_Disease_Description__c":"Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:319552","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013955","ORPHANET_ID__c":"ORPHA:319552","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del il12rb1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del il12rb1","Spanish_GARD_Synonym__c":"msmd por deficiencia completa del il12rb1; msmd por deficiencia completa del receptor beta 1 de la interleucina 12; susceptibilidad mendeliana a la deficiencia del receptor beta 1 de la interleucina 12","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":"Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.","Curated_Disease_Description_Source__c":"MONDO:0013955","GARD_Synonym__c":"autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1; il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; il12rb1 deficiency; immunodeficiency 30; immunodeficiency type 30; mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; msmd due to complete il12rb1 deficiency; msmd due to complete interleukin 12 receptor beta 1 deficiency","Name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:319552"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4013949"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010984","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4013949","Source__c":"C4013949","Xref__c":"C4013949"},{"URL__c":"https://www.omim.org/entry/614891","Source__c":"C4013949; MONDO:0013955; ORPHA:319552","Xref__c":"OMIM:614891"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=862386","Source__c":"C4013949","Xref__c":"MEDGEN:862386"},{"URL__c":"https://www.orpha.net/en/disease/detail/319552","Source__c":"C4013949; MONDO:0013955","Xref__c":"ORPHA:319552"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111990","Source__c":"MONDO:0013955","Xref__c":"DOID:0111990"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176800","Source__c":"C4013949","Xref__c":"C176800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013955","Source__c":"GARD:0010984","Xref__c":"MONDO:0013955"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL12RB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:319552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020105","HPO_Name__c":"Severe toxoplasmosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","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":"ORPHA:319552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011274","HPO_Name__c":"Recurrent mycobacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002840","HPO_Synonym__c":"Inflammation of the lymph nodes","HPO_Name__c":"Lymphadenitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020087","HPO_Synonym__c":"BCGiosis; Disseminated Bacillus Calmette-Guerin infection","HPO_Name__c":"BCGosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032249","HPO_Synonym__c":"Valley fever","HPO_Name__c":"Coccidioidomycosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infection by the protozan parasite of the genus Leishmania.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007408","HPO_Name__c":"Tegumentary leishmaniasis susceptibility","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005401","HPO_Synonym__c":"Frequent candida infections","HPO_Name__c":"Recurrent candida infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032256","HPO_Name__c":"Histoplasmosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002742","HPO_Synonym__c":"Klebsiella infections, recurrent","HPO_Name__c":"Recurrent Klebsiella infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200029","HPO_Synonym__c":"Cutaneous vasculitis","HPO_Name__c":"Vasculitis in the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis caused by infection with the bacteria, salmonella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005661","HPO_Synonym__c":"Salmonella bone infection","HPO_Name__c":"Salmonella osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:319552","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011117","HPO_Synonym__c":"Abnormal serum IL level; Abnormal serum interleukin level; Abnormality of IL secretion; Abnormality of interleukin secretion","HPO_Name__c":"Abnormal circulating interleukin concentration","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 mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1"," il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"," il12rb1 deficiency"," immunodeficiency 30"," immunodeficiency type 30"," mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"," msmd due to complete il12rb1 deficiency"," msmd due to complete interleukin 12 receptor beta 1 deficiency"]}