Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Human Molecular Genetics

Volumn 22, Issue 4, 2013, Pages 769-781

  Kong, Xiao Fei ^a   Vogt, Guillaume ^a,b,c   Itan, Yuval ^a   Macura Biegun, Anna ^d   Szaflarska, Anna ^d   Kowalczyk, Danuta ^d   Chapgier, Ariane ^b,c   Abhyankar, Avinash ^a   Furthner, Dieter ^e   Djambas Khayat, Claudia ^f   Okada, Satoshi ^a   Bryant, Vanessa L ^a   Bogunovic, Dusan ^a   Kreins, Alexandra ^a   Moncada Vélez, Marcela ^a,g   Migaud, Mélanie ^b   Al Ajaji, Sulaiman ^h   Al Muhsen, Saleh ⁱ   Holland, Steven M ^j   Abel, Laurent ^b,c   Picard, Capucine ^b,c,l   Chaussabel, Damien ^k   Bustamante, Jacinta ^b,c,l   Casanova, Jean Laurent ^a,b,c,l   Boisson Dupuis, Stéphanie ^a,b,c   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b IMAGINE INSTITUTE   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^e KEPLER UNIVERSITY HOSPITAL   (Austria)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

^g UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^h KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

ⁱ KING SAUD UNIVERSITY   (Saudi Arabia)

^j NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^k BENAROYA RESEARCH INSTITUTE   (United States)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR; GAMMA INTERFERON RECEPTOR 2; INTERLEUKIN 4; STAT1 PROTEIN; STREPTOMYCIN; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; ANTIMICROBIAL THERAPY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; BONE MARROW CELL; CASE REPORT; CD4+ T LYMPHOCYTE; EPSTEIN BARR VIRUS; FEMALE; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE LOCUS; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; LYMPH NODE DISSECTION; LYMPHOID CELL; MACROPHAGE; MEMORY T LYMPHOCYTE; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE; MONOCYTE; MYCOBACTERIOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; T LYMPHOCYTE;

ADOLESCENT; B-LYMPHOCYTES; BASE SEQUENCE; CASE-CONTROL STUDIES; CELLS, CULTURED; FEMALE; GENE EXPRESSION; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMANS; INTERFERON-GAMMA; MYCOBACTERIUM INFECTIONS; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHOSPHORYLATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECEPTORS, INTERFERON; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84873025890     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds484     Document Type: Article

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