IL-12R BETA1 DEFICIENCY AND PARACOCCIDIOIDOMYCOSIS: A SECOND CASE REPORT

Abstract

Mendelian inheritance to mycobacterial disease (MSMD) refers to a group of diseases characterized by predisposition to clinical disease caused by environmental non-tuberculous or poorly virulent mycobacterial species such as Bacille Calmette-Guérin (BCG) vaccine. Mutations in 6 components of the IFN-gamma/IL-12 axis underlie MSMD: IFNR1,IFNR2,STAT1,IL12B, IL12RB1, IKBKG and IRF8. BMSS, a 11 years old girl, born to a consanguineous couple, presented disseminated BCG infection in infancy. Treatment was instituted during three years. Approximately two months prior to hospitalization the patient traveled to a rural area of Minas Gerais, Brazil. 40 days later she presented painful cervical lymphadenopathy and a lytic lesion in the right tibia. Histopathological findings showed an inflammatory reaction rich in histiocytes resembling granulomas, plenty of fungal structures with multiple gemulations that proved to be Paracoccidioides brasiliensis. At that time she was investigated for a possible primary immunodeficiency, being diagnosed a IL12RB1 deficiency. She was treated with Itraconazole with an adequate response. After nine months she started to present fever, cough and right side pleuritis. BAL showed positive ACB identified by PCR as M. tuberculosis. Lung biopsy showed malformed granulomas again, with ACB. She is nowadays being treated with Rifampin, Isoniazid, Ethambutol, Pyrazinamide and Clarithromycin. We then started IFN-gamma therapy with a quick improvement of the clinical status of the patient.