Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency.
Adolescent
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Herpes Simplex
/ genetics
Humans
Immunologic Deficiency Syndromes
/ genetics
Infant
Male
Mutation
/ genetics
Mycobacterium Infections, Nontuberculous
/ genetics
Mycobacterium bovis
/ immunology
Prospective Studies
Receptors, Interleukin-12
/ genetics
Simplexvirus
/ physiology
IL12Rβ1
Mendelian susceptibility to mycobacterial diseases
Primary immunodeficiency
Vaccination side effects
Journal
Allergologia et immunopathologia
ISSN: 1578-1267
Titre abrégé: Allergol Immunopathol (Madr)
Pays: Singapore
ID NLM: 0370073
Informations de publication
Date de publication:
Historique:
received:
27
10
2018
revised:
23
01
2019
accepted:
07
02
2019
pubmed:
28
7
2019
medline:
18
2
2020
entrez:
28
7
2019
Statut:
ppublish
Résumé
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 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.
Sections du résumé
BACKGROUND
BACKGROUND
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.
METHODS
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
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
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 31350062
pii: S0301-0546(19)30044-8
doi: 10.1016/j.aller.2019.02.004
pii:
doi:
Substances chimiques
IL12RB1 protein, human
0
Receptors, Interleukin-12
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
491-498Informations de copyright
Copyright © 2019 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.