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Mendelian Susceptibility to Mycobacterial Disease: Clinical and Immunological Findings of Patients Suspected for Il12rβ1 Deficiency Publisher Pubmed



Moradi L1 ; Cheraghi T2 ; Yazdani R1 ; Azizi G3 ; Rasouli S4 ; Zavareh FT1 ; Parvaneh L1 ; Parvaneh N1 ; Sohani M1 ; Delavari S1 ; Abolhassani H1, 5 ; Rezaei N1 ; Aghamohammadi A1
Authors

Source: Allergologia et Immunopathologia Published:2019


Abstract

Background: Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria (Bacillus Calmette-Guerin [BCG] vaccines and environmental mycobacteria), Mycobacterium tuberculosis, Candida spp. and Salmonella spp. The aim of this study is to evaluate clinical features and immunological findings of MSMD patients with interleukin 12 receptor beta 1 (IL12Rβ1) deficiency. Methods: Among 117 screened patients with BCG infection following vaccination, 23 suspected MSMD subjects were recruited to this study by the exclusion of severe combined immunodeficiencies and chronic granulomatous diseases. Flow cytometric assessment for surface expression of IL12Rβ1 was performed. Moreover, the clinical and immunological data from the patients was evaluated. Results: A significant decrease (less than 1%) in the surface expression of IL12Rβ1 was reported in six cases which showed a significant increase in the count of lymphocytes (p = 0.009) and CD8+ T cells (p = 0.008) as compared to MSMD subjects with normal expression of surface IL12Rβ1. The frequency of disseminated BCGosis (50% vs. 20%, p = 0.29), recurrent infection (83.3% vs. 40%, p = 0.14) and salmonellosis (33.3% vs. 0.0%, p = 0.07) was higher in IL12Rβ1 deficient subjects than IL12Rβ1 sufficient individuals. Conclusion: MSMD patients with childhood onset of mycobacteriosis (mostly after BCG vaccination) and recurrent salmonellosis could be evaluated for IL12Rβ1 expression with flow cytometry for punctual diagnosis. © 2019 SEICAP
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