Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

ABSTRACT: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome, the known genetic etiologies of which impair the production of, or the response to interferon-gamma (IFN-γ). We report here a patient (P1) with MSMD whose cells display mildly impaired responses to IFN-γ, at leve...

Full description

Autores:

Moncada Vélez, Marcela
Kong, Xiao Fei
Vogt, Guillaume
Itan, Yuval
Macura Biegun, Anna
Szaflarska, Anna
Kowalczyk, Danuta
Chapgier, Ariane
Abhyankar, Avinash
Furthner, Dieter
Djambas Khayat, Claudia
Okada, Satoshi
Bryant, Vanessa L.
Bogunovic, Dusan
Kreins, Alexandra
Migaud, Melanie
Al-Ajaji, Sulaiman
Al-Muhsen, Saleh
Holland, Steven M.
Abel, Laurent
Picard, Capucine
Chaussabel, Damien
Bustamante, Jacinta
Casanova, Jean-Laurent
Boisson Dupuis, Stephanie

Tipo de recurso:

Article of investigation

Fecha de publicación:

2012

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/43120

Acceso en línea:

https://hdl.handle.net/10495/43120

Palabra clave:

B-Lymphocytes
Linfocitos B
Base Sequence
Secuencia de Bases
Case-Control Studies
Estudios de Casos y Controles
Cells, Cultured
Células Cultivadas
Gene Expression
Expresión Génica
Genes, Dominant
Genes Dominantes
Genetic Association Studies
Estudios de Asociación Genética
Genetic Predisposition to Disease
Predisposición Genética a la Enfermedad
Haploinsufficiency
HaploinsufIciencia
Heterozygote
Heterocigoto
Interferon-gamma
Interferón gamma
Mycobacterium Infections
Infecciones por Mycobacterium
Mycobacterium Infections, Nontuberculous
Infecciones por Mycobacterium no Tuberculosas
Oligonucleotide Array Sequence Analysis
Análisis de Secuencia por Matrices de Oligonucleótidos
Phosphorylation
Fosforilación
Protein Processing, Post-Translational
Procesamiento Proteico-Postraduccional
Receptors, Interferon
Receptores de Interferón
Sequence Analysis, DNA
Análisis de Secuencia de ADN
Sequence Deletion
Eliminación de Secuencia
https://id.nlm.nih.gov/mesh/D001402
https://id.nlm.nih.gov/mesh/D001483
https://id.nlm.nih.gov/mesh/D016022
https://id.nlm.nih.gov/mesh/D002478
https://id.nlm.nih.gov/mesh/D015870
https://id.nlm.nih.gov/mesh/D005799
https://id.nlm.nih.gov/mesh/D056726
https://id.nlm.nih.gov/mesh/D020022
https://id.nlm.nih.gov/mesh/D057895
https://id.nlm.nih.gov/mesh/D006579
https://id.nlm.nih.gov/mesh/D007371
https://id.nlm.nih.gov/mesh/D009164
https://id.nlm.nih.gov/mesh/D009165
https://id.nlm.nih.gov/mesh/D020411
https://id.nlm.nih.gov/mesh/D010766
https://id.nlm.nih.gov/mesh/D011499
https://id.nlm.nih.gov/mesh/D017471
https://id.nlm.nih.gov/mesh/D017422
https://id.nlm.nih.gov/mesh/D017384

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc/4.0/