A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette–Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency...

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Published inImmunogenetics (New York) Vol. 66; no. 1; pp. 67 - 71
Main Authors Ben-Mustapha, Imen, Ben-Ali, Meriem, Mekki, Najla, Patin, Etienne, Harmant, Christine, Bouguila, Jihène, Elloumi-Zghal, Houda, Harbi, Abdelaziz, Béjaoui, Mohamed, Boughammoura, Lamia, Chemli, Jalel, Barbouche, Mohamed-Ridha
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 2014
Springer Nature B.V
Springer Verlag
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Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette–Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD. Nine mutant alleles only have been identified in the IL12B gene, and three of them are recurrent mutations due to a founder effect in specific populations. IL-12p40 deficiency has been identified especially in countries where consanguinity is high and where BCG vaccination at birth is universal. We investigated, in such settings, the clinical, cellular, and molecular features of six IL-12p40-deficient Tunisian patients having the same mutation in IL12B gene (c.298_305del). We found that this mutation is inherited as a common founder mutation arousing ~1,100 years ago. This finding facilitates the development of a preventive approach by genetic counseling and prenatal diagnosis especially in affected families.
AbstractList Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette-Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD. Nine mutant alleles only have been identified in the IL12B gene, and three of them are recurrent mutations due to a founder effect in specific populations. IL-12p40 deficiency has been identified especially in countries where consanguinity is high and where BCG vaccination at birth is universal. We investigated, in such settings, the clinical, cellular, and molecular features of six IL-12p40-deficient Tunisian patients having the same mutation in IL12B gene (c.298_305del). We found that this mutation is inherited as a common founder mutation arousing ~1,100 years ago. This finding facilitates the development of a preventive approach by genetic counseling and prenatal diagnosis especially in affected families.
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette-Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD. Nine mutant alleles only have been identified in the IL12B gene, and three of them are recurrent mutations due to a founder effect in specific populations. IL-12p40 deficiency has been identified especially in countries where consanguinity is high and where BCG vaccination at birth is universal. We investigated, in such settings, the clinical, cellular, and molecular features of six IL-12p40-deficient Tunisian patients having the same mutation in IL12B gene (c.298_305del). We found that this mutation is inherited as a common founder mutation arousing ~1,100 years ago. This finding facilitates the development of a preventive approach by genetic counseling and prenatal diagnosis especially in affected families.[PUBLICATION ABSTRACT]
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette–Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD. Nine mutant alleles only have been identified in the IL12B gene, and three of them are recurrent mutations due to a founder effect in specific populations. IL-12p40 deficiency has been identified especially in countries where consanguinity is high and where BCG vaccination at birth is universal. We investigated, in such settings, the clinical, cellular, and molecular features of six IL-12p40-deficient Tunisian patients having the same mutation in IL12B gene (c.298_305del). We found that this mutation is inherited as a common founder mutation arousing ~1,100 years ago. This finding facilitates the development of a preventive approach by genetic counseling and prenatal diagnosis especially in affected families.
Author Mekki, Najla
Patin, Etienne
Chemli, Jalel
Bouguila, Jihène
Harmant, Christine
Boughammoura, Lamia
Béjaoui, Mohamed
Ben-Ali, Meriem
Elloumi-Zghal, Houda
Harbi, Abdelaziz
Ben-Mustapha, Imen
Barbouche, Mohamed-Ridha
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  email: ridha.barbouche@pasteur.rns.tn
  organization: Laboratory of Transmission, Control and Immunobiology of Infections (LTCII), Institut Pasteur de Tunis, LR11IPT02, Université Tunis El Manar
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Issue 1
Keywords Primary immunodeficiency disease
Consanguinity
deficiency
Founder effect
Tunisia
Language English
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SSID ssj0015926
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Snippet Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent...
SourceID hal
proquest
crossref
pubmed
springer
SourceType Open Access Repository
Aggregation Database
Index Database
Publisher
StartPage 67
SubjectTerms Adult
Alleles
Allergology
Bacteriology
BCG Vaccine
BCG Vaccine - therapeutic use
Biomedical and Life Sciences
Biomedicine
Brief Communication
Cell Biology
Chicken pox
Child
Cytokines
Disease
Female
Founder Effect
Gene Function
Genes
Genetic counseling
Genetic Predisposition to Disease
Genetic screening
Genetics
Genotype
Human Genetics
Humans
Immune system
Immunology
Infections
Interleukin-12 Subunit p40
Interleukin-12 Subunit p40 - deficiency
Interleukin-12 Subunit p40 - genetics
Life Sciences
Male
Microbiology and Parasitology
Mutation
Mutation - genetics
Mycobacterium bovis
Mycobacterium bovis - isolation & purification
Mycobacterium Infections
Mycobacterium Infections - genetics
Mycobacterium Infections - immunology
Mycobacterium Infections - microbiology
Mycobacterium Infections - prevention & control
Patients
Pediatrics
Pedigree
Salmonella
Tunisia
Viral infections
Virulence
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Title A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients
URI https://link.springer.com/article/10.1007/s00251-013-0739-0
https://www.ncbi.nlm.nih.gov/pubmed/24127073
https://www.proquest.com/docview/1473309070
https://search.proquest.com/docview/1490786215
https://riip.hal.science/pasteur-01061271
Volume 66
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