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Inicio Allergologia et Immunopathologia Mendelian susceptibility to mycobacterial disease: Clinical and immunological fi...
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Vol. 47. Issue 5.
Pages 491-498 (September - October 2019)
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Vol. 47. Issue 5.
Pages 491-498 (September - October 2019)
Original Article
DOI: 10.1016/j.aller.2019.02.004
Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency
L. Moradia,f, T. Cheraghib,f, R. Yazdania, G. Azizic, S. Rasoulid, F.T. Zavareha, L. Parvaneha, N. Parvaneha, M. Sohania, S. Delavaria, H. Abolhassania,e, Nima Rezaeia, A. Aghamohammadia,
Corresponding author

Corresponding author.
a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
b Department of Pediatrics, 17th Shahrivar Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran
c Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
d Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
e Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
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Figures (1)
Tables (3)
Table 1. Characteristics of patients with MSMD (n=23).
Table 2. Clinical and immunological findings in IL12Rβ1 deficient MSMD subjects.
Table 3. Comparison of MSMD subjects with and without IL12Rβ1 deficiency.
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Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria (Bacillus Calmette-Guérin [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.


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.


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.


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.

Primary immunodeficiency
Mendelian susceptibility to mycobacterial diseases
Vaccination side effects


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