Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease (2006)
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg, Ada Prochnicka-Chalufour, ...
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1...
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection (2005)
De Villartay, Jean-Pierre, Lim, Annick, Al-Mousa, Hamoud, Dupont, Sophie, Déchanet-Merville, Julie, Coumau-Gatbois, Edith, ...
Toll-related receptors and the control of antimicrobial peptide expression in Drosophila
Tauszig, Servane, Jouanguy, Emmanuelle, Hoffmann, Jules A., Imler, Jean-Luc
Insects defend themselves against infectious microorganisms by synthesizing potent antimicrobial peptides. Drosophila has appeared in recent years as a favorable model to study this innate host...
In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ
Jouanguy, Emmanuelle, Dupuis, Stéphanie, Pallier, Annaïck, Döffinger, Rainer, Fondanèche, Marie-Claude, Fieschi, Claire, ...
Complete IFN-γ receptor ligand-binding chain (IFNγR1) deficiency is a life-threatening autosomal recessive immune disorder. Affected children invariably die of mycobacterial infection, unless bone...
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
De Villartay, Jean-Pierre, Lim, Annick, Al-Mousa, Hamoud, Dupont, Sophie, Déchanet-Merville, Julie, Coumau-Gatbois, Edith, ...
Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T–B– SCID, whereas hypomorphic mutations led to the expansion of a few autoimmune T cell clones...
Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease
Chapgier, Ariane, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Vogt, Guillaume, Feinberg, Jacqueline, Prochnicka-Chalufour, Ada, ...
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1...
Eidenschenk, Céline, Dunne, Jean, Jouanguy, Emmanuelle, Fourlinnie, Claire, Gineau, Laure, Bacq, Delphine, ...
We describe four children with a novel primary immunodeficiency consisting of specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an Epstein-Barr...
Toll-related receptors and the control of antimicrobial peptide expression in Drosophila
Tauszig, Servane, Jouanguy, Emmanuelle, Hoffmann, Jules A., Imler, Jean-Luc
Insects defend themselves against infectious microorganisms by synthesizing potent antimicrobial peptides. Drosophila has appeared in recent years as a favorable model to study this innate host...
In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ
Jouanguy, Emmanuelle, Dupuis, Stéphanie, Pallier, Annaïck, Döffinger, Rainer, Fondanèche, Marie-Claude, Fieschi, Claire, ...
Complete IFN-γ receptor ligand-binding chain (IFNγR1) deficiency is a life-threatening autosomal recessive immune disorder. Affected children invariably die of mycobacterial infection, unless bone...
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
De Villartay, Jean-Pierre, Lim, Annick, Al-Mousa, Hamoud, Dupont, Sophie, Déchanet-Merville, Julie, Coumau-Gatbois, Edith, ...
Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T–B– SCID, whereas hypomorphic mutations led to the expansion of a few autoimmune T cell clones...
Eidenschenk, Céline, Dunne, Jean, Jouanguy, Emmanuelle, Fourlinnie, Claire, Gineau, Laure, Bacq, Delphine, ...
We describe four children with a novel primary immunodeficiency consisting of specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an Epstein-Barr...
Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease
Chapgier, Ariane, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Vogt, Guillaume, Feinberg, Jacqueline, Prochnicka-Chalufour, Ada, ...
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1...
Osteopontin Expression Correlates with Clinical Outcome in Patients with Mycobacterial Infection
Nau, Gerard J., Chupp, Geoffrey L., Emile, Jean-François, Jouanguy, Emmanuelle, Berman, Jeffrey S., Casanova, Jean-Laurent, ...
Osteopontin (OPN) is a protein that is expressed in chronic inflammatory diseases including tuberculosis, and its deficiency predisposes to more severe mycobacterial infections in mice. However, no...
Filipe-Santos, Orchidée, Bustamante, Jacinta, Haverkamp, Margje H., Vinolo, Emilie, Ku, Cheng-Lung, Puel, Anne, ...
Germline mutations in five autosomal genes involved in interleukin (IL)-12–dependent, interferon (IFN)-γ–mediated immunity cause Mendelian susceptibility to mycobacterial diseases (MSMD). The...