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index medicus (11) 11
immunology (9) 9
mutation (8) 8
allergy and immunology (7) 7
humans (7) 7
abridged index medicus (6) 6
allergy (5) 5
ifn-gamma (5) 5
inborn-errors (5) 5
infectious diseases (5) 5
viral infections (5) 5
clinical-features (4) 4
deficiency (4) 4
genetics (4) 4
kinases (4) 4
life sciences (4) 4
male (4) 4
phosphorylation (4) 4
proteins (4) 4
article (3) 3
bcg (3) 3
candidiasis (3) 3
child (3) 3
disease (3) 3
female (3) 3
genetic aspects (3) 3
immunodeficiency (3) 3
infections (3) 3
stat1 transcription factor - genetics (3) 3
alleles (2) 2
amino acids (2) 2
bacille calmette-guerin (2) 2
care and treatment (2) 2
cell differentiation - genetics (2) 2
cells, cultured (2) 2
child, preschool (2) 2
chronic mucocutaneous candidiasis (2) 2
cloning (2) 2
cytokines (2) 2
deoxyribonucleic acid--dna (2) 2
disease susceptibility (2) 2
experiments (2) 2
function stat1 mutations (2) 2
genes (2) 2
genetic transcription (2) 2
genomes (2) 2
health aspects (2) 2
hyper ige syndrome (2) 2
il-21 receptor (2) 2
immunoglobulin e (2) 2
immunoglobulins (2) 2
immunologic memory (2) 2
infant (2) 2
interferon-gamma - metabolism (2) 2
internal medicine (2) 2
lymphocytes (2) 2
lymphocytes b (2) 2
lymphocytes t (2) 2
mesh : child (2) 2
mesh : child, preschool (2) 2
mesh : female (2) 2
mesh : humans (2) 2
mesh : infant (2) 2
mesh : male (2) 2
mesh : mycobacterium infections (2) 2
mesh: child (2) 2
mesh: child, preschool (2) 2
mesh: female (2) 2
mesh: humans (2) 2
mesh: infant (2) 2
mesh: male (2) 2
mesh: mycobacterium infections (2) 2
multidisciplinary sciences (2) 2
mutations (2) 2
mycobacterium infections (2) 2
mycobacterium infections - etiology (2) 2
mycobacterium infections - genetics (2) 2
mycoses (2) 2
patients (2) 2
primary immunodeficiencies (2) 2
respiratory distress syndrome (2) 2
stat3 (2) 2
stat3 transcription factor - genetics (2) 2
susceptibility (2) 2
t cell receptors (2) 2
transcription (2) 2
tyrosine (2) 2
vaccination (2) 2
γ-interferon (2) 2
1st report (1) 1
2 children (1) 1
310 (1) 1
311 (1) 1
316 (1) 1
[ sdv ] life sciences [q-bio] (1) 1
[ sdv.imm.ia ] life sciences [q-bio]/immunology/adaptive immunology (1) 1
[sdv.gen]life sciences [q-bio]/genetics (1) 1
[sdv.imm.ia]life sciences [q-bio]/immunology/adaptive immunology (1) 1
[sdv.imm]life sciences [q-bio]/immunology (1) 1
[sdv]life sciences [q-bio] (1) 1
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by Ma, Cindy S., PhD and Wong, Natalie, BSc Hons and Rao, Geetha, MSc and Avery, Danielle T., BApplSci and Torpy, James, MPhil and Hambridge, Thomas, BSc Hons and Bustamante, Jacinta, MD, PhD and Okada, Satoshi, MD, PhD and Stoddard, Jennifer L., BS and Deenick, Elissa K., PhD and Pelham, Simon J., MSc and Payne, Kathryn, BSc Hons and Boisson-Dupuis, Stéphanie, PhD and Puel, Anne, PhD and Kobayashi, Masao, MD, PhD and Arkwright, Peter D., FRCPCH, DPhil and Kilic, Sara Sebnem, MD and El Baghdadi, Jamila, PhD and Nonoyama, Shigeaki, MD, PhD and Minegishi, Yoshiyuki, MD, PhD and Mahdaviani, Seyed Alireza, MD and Mansouri, Davood, MD and Bousfiha, Aziz, MD and Blincoe, Annaliesse K., BHB, MBChB and French, Martyn A., MB ChB, MD, FRACP, FRCPath, FRCP and Hsu, Peter, FRACP, PhD and Campbell, Dianne E., FRACP, PhD and Stormon, Michael O., MBBS, FRACP and Wong, Melanie, MBBS, PhD, FRACP, FRCPA and Adelstein, Stephen, MBBCh, PhD, FRACP, FRCPA and Smart, Joanne M., MBBS, FRACP and Fulcher, David A., MBBS, PhD, FRACP, FRCPA and Cook, Matthew C., MBBS, PhD, FRACP, FRCPA and Phan, Tri Giang, MBBS, PhD, FRACP, FRCPA and Stepensky, Polina, MD and Boztug, Kaan, MD and Kansu, Aydan, MD and İkincioğullari, Aydan, MD and Baumann, Ulrich, MD and Beier, Rita, MD and Roscioli, Tony, FRACP, PhD and Ziegler, John B., MD, FRACP and Gray, Paul, FRACP and Picard, Capucine, MD, PhD and Grimbacher, Bodo, MD and Warnatz, Klaus, MD, PhD and Holland, Steven M., MD and Casanova, Jean-Laurent, MD, PhD and Uzel, Gulbu, MD and Tangye, Stuart G., PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 993 - 1006.e1
Journal Article
by Conti, Francesca, MD, PhD and Lugo-Reyes, Saul Oswaldo, MD and Blancas Galicia, Lizbeth, MD and He, Jianxin, MD and Aksu, Güzide, MD and Borges de Oliveira, Edgar, PhD and Deswarte, Caroline, MSc and Hubeau, Marjorie, PhD and Karaca, Neslihan, MD and de Suremain, Maylis, AS and Guérin, Antoine, MSc and Baba, Laila Ait, PhD and Prando, Carolina, MD, PhD and Guerrero, Gloria G., PhD and Emiroglu, Melike, MD and Öz, Fatma Nur, MD and Yamazaki Nakashimada, Marco Antonio, MD and Gonzalez Serrano, Edith, MD and Espinosa, Sara, MD, PhD and Barlan, Isil, MD and Pérez, Nestor, MD, PhD and Regairaz, Lorena, MD and Guidos Morales, Héctor Eduardo, MD and Bezrodnik, Liliana, MD and Di Giovanni, Daniela, MD and Dbaibo, Ghassan, MD and Ailal, Fatima, MD and Galicchio, Miguel, MD and Oleastro, Matias, MD and Chemli, Jalel, MD and Danielian, Silvia, PhD and Perez, Laura, BSc and Ortega, Maria Claudia, MD and Soto Lavin, Susana, MD, PhD and Hertecant, Joseph, MD and Anal, Ozden, MD and Kechout, Nadia, MD and Al-Idrissi, Eman, MD and ElGhazali, Gehad, MD, PhD and Bondarenko, Anastasia, MD and Chernyshova, Liudmyla, MD and Ciznar, Peter, MD and Herbigneaux, Rose-Marie, MD and Diabate, Aminata, AS and Ndaga, Stéphanie, AS and Konte, Barik, AS and Czarna, Ambre, AS and Migaud, Mélanie, AS and Pedraza-Sánchez, Sigifredo, PhD and Zaidi, Mussaret Bano, MD, Msc and Vogt, Guillaume, PhD and Blanche, Stéphane, MD and Benmustapha, Imen, MD and Mansouri, Davood, MD and Abel, Laurent, MD, PhD and Boisson-Dupuis, Stéphanie, PhD and Mahlaoui, Nizar, MD, MSc, MPH and Bousfiha, Ahmed Aziz, MD and Picard, Capucine, MD, PhD and Barbouche, Ridha, MD, PhD and Al-Muhsen, Saleh, MD and Espinosa-Rosales, Francisco J., MD and Kütükçüler, Necil, MD and Condino-Neto, Antonio, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Bustamante, Jacinta, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 241 - 248.e3
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide... 
Allergy and Immunology | primary immunodeficiency | chronic granulomatous disease | Mycobacteria | BCG | tuberculosis | SUSCEPTIBILITY | VACCINATION | 1ST REPORT | CLINICAL-FEATURES | KINDREDS | IMMUNOLOGY | DEFICIENCY | ALLERGY | INFECTION | 2 CHILDREN | MUTATIONS | Granulomatous Disease, Chronic - mortality | Mycoses - epidemiology | Mycobacterium Infections - diagnosis | Bacterial Infections - etiology | Humans | Tuberculosis - etiology | Child, Preschool | Infant | Male | Granulomatous Disease, Chronic - complications | Tuberculosis - diagnosis | Granulomatous Disease, Chronic - epidemiology | Female | Retrospective Studies | Child | Mycobacterium Infections - epidemiology | Mycobacterium Infections - etiology | Mycobacterium Infections - mortality | Granulomatous Disease, Chronic - therapy | Patient Outcome Assessment | Bacterial Infections - epidemiology | Mycoses - diagnosis | Bacterial Infections - diagnosis | Mycoses - mortality | Mycoses - etiology | BCG Vaccine - administration & dosage | Bacterial Infections - mortality | Care and treatment | Chronic granulomatous disease | Bacterial infections | Analysis | Cytochrome | Pathogens | Immunization | Tuberculosis | Infectious diseases | Laboratories | Infections | Mutation | Patients | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 2, pp. 400 - 411.e9
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 51, pp. E8277 - E8285
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2018, Volume 38, Issue 5, pp. 617 - 627
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2006, Volume 2, Issue 8, pp. e131 - 1206
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections.... 
PHOSPHORYLATED STAT-1 | INTERFERON-GAMMA-RECEPTOR | INHERITED INTERLEUKIN-12 DEFICIENCY | TARGETED DISRUPTION | GENETIC DISSECTION | VIRAL DISEASE | SIGNALING PATHWAY | CHAIN DEFICIENCY | BACILLE CALMETTE-GUERIN | IFN-GAMMA | GENETICS & HEREDITY | Humans | GPI-Linked Proteins | Child, Preschool | Infant | Male | Interferon-gamma - metabolism | DNA-Binding Proteins - metabolism | STAT1 Transcription Factor - metabolism | Transfection - methods | Genes, Dominant | DNA Mutational Analysis | Mycobacterium Infections - genetics | Adult | Female | Transcription, Genetic | Membrane Proteins - metabolism | Child | Interferon-alpha - metabolism | Mycobacterium Infections - etiology | Cell Cycle Proteins - metabolism | Cells, Cultured | Gene Expression Regulation | Models, Molecular | STAT1 Transcription Factor - genetics | Genes, Recessive | Interferon-Stimulated Gene Factor 3, gamma Subunit - metabolism | Immunity, Active - genetics | Models, Biological | Pedigree | Mutant Proteins - chemistry | Adolescent | Alleles | Protein Binding | Heterozygote | Mutation | Allelomorphism | Mycobacterial infections | Genetic aspects | Research | Health aspects | Interferon-Stimulated Gene Factor 3, gamma Subunit | Adaptive immunology | Life Sciences | Immunology | Interferon Type II | DNA-Binding Proteins | Immunity, Active | STAT1 Tra | Interferon-alpha | Mycobacterium Infections | Membrane Proteins | Mutant Proteins | Cell Cycle Proteins | Infectious Diseases | Genetics | Homo (Human) | Genetics of Disease | Proteins | Phosphorylation | Disease | Respiratory distress syndrome | Cloning | Kinases | Experiments | Viral infections
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