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Nature Immunology, ISSN 1529-2908, 03/2011, Volume 12, Issue 3, pp. 213 - 221
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2008, Volume 205, Issue 7, pp. 1543 - 1550
Journal Article
by De Beaucoudrey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurélie and Boisson-Dupuis, Stéphanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Jannière, Lucile and Rose, Yoann and De Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidée and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Rodriguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Andrew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandené, Liliane and Schepers, Kinda and Efira, André and Mascart, Françoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blüetters-Sawatzki, Renate and Bernhöft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Müller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejandra and Bezrodnik, Liliana and Di Giovani, Daniela and Gaillard, Maria Isabel and De Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and Da Silva Duarte, Alberto Jose and Aldana, Ruth and Espinosa-Rosales, Francisco Javier and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and Baghdadi, Jamila El and Özbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Journal Article
Science, ISSN 0036-8075, 8/2008, Volume 321, Issue 5889, pp. 691 - 696
MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to... 
Receptors | Phenotypes | Transfection | Cytokines | HEK293 cells | Genes | Cell lines | Fibroblasts | Agonists | Reports | Children | MYD88-DEFICIENT MICE | HERPES-SIMPLEX-VIRUS | PROTECTIVE IMMUNITY | MYELOID DIFFERENTIATION FACTOR-88 | PSEUDOMONAS-AERUGINOSA | MULTIDISCIPLINARY SCIENCES | HUMORAL IMMUNITY | STAPHYLOCOCCUS-AUREUS | AERUGINOSA LUNG INFECTION | HOST RESPONSE | CUTTING EDGE | Humans | Child, Preschool | Male | Mutation, Missense | Bacterial Infections - genetics | Pneumococcal Infections - immunology | Bacterial Infections - immunology | Gene Deletion | Pneumococcal Infections - genetics | Female | Toll-Like Receptors - metabolism | Child | Staphylococcal Infections - genetics | Disease Susceptibility | Cytokines - metabolism | Signal Transduction | Staphylococcal Infections - immunology | Receptors, Interleukin-1 - immunology | Toll-Like Receptors - immunology | Myeloid Differentiation Factor 88 - genetics | Immunity, Innate | Pseudomonas Infections - genetics | Pseudomonas Infections - immunology | Receptors, Interleukin-1 - metabolism | Animals | Myeloid Differentiation Factor 88 - deficiency | Adolescent | Mice | Myeloid Differentiation Factor 88 - metabolism | Cell Line, Transformed | Genetic aspects | Bacterial infections | Pediatrics | Bacteria | Biomedical research | Genetic disorders | Immunology | Pneumococcal Infections | Life Sciences | Toll-Like Receptors | Bacterial Infections | Myeloid Differentiation Factor 88 | Bacteriology | Staphylococcal Infections | Microbiology and Parasitology | Pseudomonas Infections | Receptors, Interleukin-1
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 04/2011, Volume 20, Issue 8, pp. 1509 - 1523
We report a series of 14 patients from 11 kindreds with recessive partial (RP)- interferon (IFN)-gamma R1 deficiency. The I87T mutation was found in nine... 
MEDIATED IMMUNITY | CALMETTE-GUERIN INFECTION | HUMAN STAT1 DEFICIENCY | INTERFERON-GAMMA | IFN-GAMMA | IL-12R-BETA-1 DEFICIENCY | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CRYPTOSPORIDIUM-PARVUM | GENETICS & HEREDITY | GAMMA-RECEPTOR DEFICIENCY | STEM-CELL TRANSPLANTATION | Haplotypes | Salmonella | Phosphorylation | Humans | Osteomyelitis - genetics | Salmonella Infections - genetics | Child, Preschool | Molecular Sequence Data | Male | Monocytes - metabolism | Tuberculosis - microbiology | Interferon-gamma - metabolism | Mutation, Missense | Mycobacterium Infections - immunology | Young Adult | Founder Effect | STAT1 Transcription Factor - metabolism | Mycobacterium Infections - genetics | Adult | Female | Mycobacterium Infections - microbiology | Pneumonia, Bacterial - genetics | Child | Receptors, Interferon - genetics | Amino Acid Sequence | Genetic Predisposition to Disease | Tuberculosis - mortality | Mycobacterium bovis | Receptors, Interferon - deficiency | Mycobacterium avium | Genes, Recessive | Protein Transport | Phenotype | Receptors, Interferon - immunology | Tuberculosis - genetics | Osteomyelitis - microbiology | Pedigree | Adolescent | Infection | Tuberculosis | Prophylaxis | gamma -Interferon | Salmonellosis | Children | Mutation | Founder effect | Mycobacteriosis | Islands | Age | Genotypes
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2013, Volume 92, Issue 2, pp. 109 - 122
Journal Article
by de Beaucouey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurelie and Boisson-Dupuis, Stephanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Janniere, Lucile and Rose, Yoann and de Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidee and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Roiguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Anew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandene, Liliane and Schepers, Kinda and Efira, Ane and Mascart, Francoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blueetters-Sawatzki, Renate and Bernhoeft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Mueller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejana and Bezrodnik, Liliana and Di Giovani, Daniela and Isabel Gaillard, Maria and de Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and da Silva Duarte, Alberto Jose and Aldana, Ruth and Javier Espinosa-Rosales, Francisco and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and El Baghdadi, Jamila and Ozbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an... 
MEDICINE, GENERAL & INTERNAL | INTERFERON-GAMMA RECEPTOR | CALMETTE-GUERIN INFECTION | RECEPTOR BETA-1 DEFICIENCY | IFN-GAMMA | HOST-DEFENSE | GENETIC-HETEROGENEITY | MYCOBACTERIUM-AVIUM INFECTION | CLINICAL-FEATURES | INTERLEUKIN-12/23 MONOCLONAL-ANTIBODY | T-HELPER-CELLS | Life Sciences
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2011, Volume 6, Issue 4, p. e18524
We searched for IL12RB1 mutations in a series of 50 children from Iran, Morocco, and Turkey. All children had established severe pulmonary and/or disseminated... 
Parenting | Tuberculosis | Development and progression | Antitubercular agents
Journal Article