{"disease":{"id":"OMIM:619630","name":"Immunodeficiency 88","mondoId":"MONDO:0030483","description":"An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines."},"categories":{"Clinical course":[{"id":"HP:0003593","name":"Infantile onset","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33296702"]},"category":"Clinical course"}],"Immunology":[{"id":"HP:0020087","name":"BCGosis","metadata":{"sex":"","onset":"HP:0003593","frequency":"1/1","sources":["PMID:33296702"]},"category":"Immunology"},{"id":"HP:0002099","name":"Asthma","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33296702"]},"category":"Immunology"}],"Inheritance":[{"id":"HP:0000007","name":"Autosomal recessive inheritance","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:33296702"]},"category":"Inheritance"}],"Blood and blood-forming tissues":[{"id":"HP:0001880","name":"Increased total eosinophil count","metadata":{"sex":"","onset":"","frequency":"1/1","sources":["PMID:33296702"]},"category":"Blood and blood-forming tissues"}]},"genes":[{"id":"NCBIGene:30009","name":"TBX21"}],"medicalActions":[]}