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...
Courtois, Gilles, Smahi, Asma, Reichenbach, Janine, Döffinger, Rainer, Cancrini, Caterina, Bonnet, Marion, ...
X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKγ, the regulatory subunit of the IκB kinase (IKK) complex....
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...
Puel, Anne, Reichenbach, Janine, Bustamante, Jacinta, Ku, Cheng-Lung, Feinberg, Jacqueline, Döffinger, Rainer, ...
Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic...
Courtois, Gilles, Smahi, Asma, Reichenbach, Janine, Döffinger, Rainer, Cancrini, Caterina, Bonnet, Marion, ...
X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKγ, the regulatory subunit of the IκB kinase (IKK) complex....
Picard, Capucine, Fieschi, Claire, Altare, Frédéric, Al-Jumaah, Suliman, Al-Hajjar, Sami, Feinberg, Jacqueline, ...
Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-γ production by natural-killer and T lymphocytes. It consists of two...
Puel, Anne, Reichenbach, Janine, Bustamante, Jacinta, Ku, Cheng-Lung, Feinberg, Jacqueline, Döffinger, Rainer, ...
Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic...
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...
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...
Fieschi, Claire, Dupuis, Stéphanie, Catherinot, Emilie, Feinberg, Jacqueline, Bustamante, Jacinta, Breiman, Adrien, ...
The clinical phenotype of interleukin 12 receptor β1 chain (IL-12Rβ1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients...
Di Santo, James P., Aifantis, Iannis, Rosmaraki, Eleftheria, Garcia, Corinne, Feinberg, Jacqueline, Fehling, Hans Jörg, ...
Intracellular signals emanating from cytokine and antigen receptors are integrated during the process of intrathymic development. Still, the relative contributions of cytokine receptor signaling to...
Early T Cell Receptor β Gene Expression Is Regulated by the Pre-T Cell Receptor–CD3 Complex
Aifantis, Iannis, Feinberg, Jacqueline, Fehling, Hans Jörg, Di Santo, James P., Von Boehmer, Harald
We have examined the question of whether there is an additional checkpoint in T cell development that regulates T cell receptor (TCR)-β expression in CD25+44− thymocytes by mechanisms that are...
Aifantis, Iannis, Pivniouk, Vadim I., Gärtner, Frank, Feinberg, Jacqueline, Swat, Wojciech, Alt, Frederick W., ...
Signaling via the pre-T cell receptor (TCR) is required for the proliferative expansion and maturation of CD4−CD8− double-negative (DN) thymocytes into CD4+CD8+ double-positive (DP) cells and for...
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
De Beaucoudrey, Ludovic, Puel, Anne, Filipe-Santos, Orchidée, Cobat, Aurélie, Ghandil, Pegah, Chrabieh, Maya, ...
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human...
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
Vogt, Guillaume, Bustamante, Jacinta, Chapgier, Ariane, Feinberg, Jacqueline, Boisson Dupuis, Stephanie, Picard, Capucine, ...
Germline mutations may cause human disease by various mechanisms. Missense and other in-frame mutations may be deleterious because the mutant proteins are not correctly targeted, do not function...
A partial form of recessive STAT1 deficiency in humans
Chapgier, Ariane, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Averbuch, Diana, Feinberg, Jacqueline, ...
Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-α/β and IFN-γ. Affected children...