Inheritable Disorders of Interferon gamma Interleukin-12 Pathway- Diagnosis And Management
Khalilzadeh Soheila, Adimi Parisa, Boloursaz Mohammad Reza, Nooshin Baghaie, Khodayari Amir Ali, Mansouri Davood
Department of Pediatrics and Pulmonology, TB and Lung Disease Research Center , NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University, Iran
Abstract

Background: Disseminated BCG infection is a typical clinical presentation in patients with an inherited disorder of the Interleukin (IL)-12-Interferon (INF)-g axis, as BCG is often the first pathogen to which patients are exposed. BCG sub strains are derived from Mycobacterium bovis. BCG vaccination is routinely carried out in most regions of the world, with up to 95% coverage of children in Iran.

Materials and Methods: Sixteen patients were found with disseminated BCG disease, with the age range between 1 month-14 years. Diagnosis was based on positive culture of M. bovis-BCG variant from blood, sputum, gastric washing, and abscess or biopsy sites. Results of laboratory tests, radiological and CT-scan findings from the site of involvement were assessed and classified.

Results: Out of 16 cases, 63% of the cases (10 patients) were males while 37% (6 patients) were females. Mean age of the patients was 4.75 ± 3.39 years old. The most common site of peripheral lymph node involvement was axillary (78%). Lung and para-aortic lymph adenopathy were the commonest site of central involvement. Six patients (38%) had defects in IL-12-INF-g axis of which three of them had IL-12Rβ₁ deficiency (mutation) and two had IL-12p40 deficiency and one had INF-g R2 deficiency.

Conclusion: Considering the results of this study, it should be emphasized that prior to BCG vaccination, in cases with the family history of BCG-osis, all siblings should be evaluated for immune system disorders.
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