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1. Full Text Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
by Kagawa, Reiko, MD and Fujiki, Ryoji, MS and Tsumura, Miyuki, PhD and Sakata, Sonoko, MD and Nishimura, Shiho, MD and Itan, Yuval, PhD and Kong, Xiao-Fei, MD, PhD and Kato, Zenichiro, MD, PhD and Ohnishi, Hidenori, MD, PhD and Hirata, Osamu, MD, PhD and Saito, Satoshi, MD and Ikeda, Maiko, MD and El Baghdadi, Jamila, PhD and Bousfiha, Aziz, MD and Fujiwara, Kaori, MD and Oleastro, Matias, MD and Yancoski, Judith, PhD and Perez, Laura, BSc and Danielian, Silvia, PhD and Ailal, Fatima, MD and Takada, Hidetoshi, MD, PhD and Hara, Toshiro, MD, PhD and Puel, Anne, PhD and Boisson-Dupuis, Stéphanie, PhD and Bustamante, Jacinta, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Ohara, Osamu, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Background Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients... 
Allergy and Immunology | alanine scanning | Signal transduction and activator of transcription 1 | chronic mucocutaneous candidiasis | Mendelian susceptibility to mycobacterial disease | reference database | FUNCTION STAT1 MUTATIONS | MYCOBACTERIAL DISEASE | IMMUNOLOGY | MULTIFOCAL OSTEOMYELITIS | INBORN-ERRORS | IFN-GAMMA IMMUNITY | COMBINED IMMUNODEFICIENCY | ALLERGY | MENDELIAN SUSCEPTIBILITY | EX-VIVO | CLINICAL PHENOTYPE | Genetic Predisposition to Disease | Alanine - genetics | Mutagenesis | Humans | Mycobacterium Infections - genetics | Protein Domains | Biological Assay | Female | Male | Mutation | STAT1 Transcription Factor - genetics | Genetic research | Mycoses | Medical colleges | Disease susceptibility | Genetic transcription | Coils | Candidiasis | Scanning | Transcription | Genes | Amino acids | Genomes | Kinases | Assaying | Proteins | Fungi | Missense mutation | Fungal diseases | Stat1 protein | Deoxyribonucleic acid--DNA | Binding | Alanine | Chronic mucocutaneous candidiasis | Scanning mutagenesis | Patients | Mutants | Diseases | Human subjects | Infectious diseases | Computer applications | Viral infections
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2. Full Text Anti–IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia
by Ku, Cheng-Lung, PhD and Lin, Chia-Hao, MS and Chang, Su-Wei, PhD and Chan, Jasper F.W., MBBS and Kong, Xiao-Fei, MD, PhD and Lee, Chen-Hsiang, MD and Rosen, Emily A., BS and Ding, Jing-Ya, MS and Lee, Wen-I., MD, PhD and Bustamante, Jacinta, MD, PhD and Witte, Torsten, MD and Shih, Han-Po, MS and Kuo, Chen-Yen, MD and Chetchotisakd, Ploenchan, MD and Kiertiburanakul, Sasisopin, MD and Suputtamongkol, Yupin, MD and Yuen, Kwok-Yung, MD and Casanova, Jean-Laurent, MD, PhD and Holland, Steven M., MD and Doffinger, Rainer, PhD, FRCPath and Browne, Sarah K., MD and Chih, Chih-Yu, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 945 - 948.e8
Allergy and Immunology | ALLERGY | NONTUBERCULOUS MYCOBACTERIAL INFECTIONS | IMMUNOLOGY | HLA-DQ beta-Chains - immunology | Genetic Association Studies | HLA-DRB1 Chains - genetics | Histocompatibility Testing | HLA-DRB1 Chains - immunology | Humans | Asian Continental Ancestry Group - genetics | HLA-DQ beta-Chains - genetics | HLA-DQ Antigens - immunology | HLA-DR Antigens - genetics | Asia, Southeastern | Autoantibodies - immunology | HLA-DQ Antigens - genetics | Alleles | Interferon-gamma - antagonists & inhibitors | HLA-DR Antigens - immunology
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3. Full Text Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries
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
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4. Full Text A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
by Khourieh, J and Rao, G and Habib, T and Avery, DT and Lefevre-Utile, A and Chandesris, MO and Belkadi, A and Chrabieh, M and Alwaseem, H and Grandin, V and Sarrot-Reynauld, F and Senechal, A and Lortholary, O and Kong, XF and Boisson-Dupuis, S and Picard, C and Puel, A and Beziat, V and Zhang, Q and Abel, L and Molina, H and Marr, N and Tangye, SG and Casanova, JL and Boisson, B
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 08/2019, Volume 116, Issue 33, pp. 16463 - 16472
Heterozygous in-frame mutations in coding regions of human STAT3 underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of... 
hyper IgE syndrome | MULTIDISCIPLINARY SCIENCES | STAT3 | infectious diseases | TRANSCRIPTION | CLINICAL-FEATURES | dominant negative | DEFICIENCY | INBORN-ERRORS | JOB-SYNDROME | KEY FINDINGS | ACTIVATOR | HYPERIMMUNOGLOBULIN-E SYNDROME | immunodeficiency | LINKER DOMAIN | SIGNAL TRANSDUCER | Proteins | Tyrosine | Advertising executives | Gene mutations | Immunoglobulin E | Genetic aspects | B cells | Genetic transcription | T cells | Phosphorylation | Transcription | Cytokines | Introns | Stat3 protein | Dominance | Mass spectroscopy | Lymphocytes T | Leukocytes | Lymphocytes B | Protein folding | Lymphocytes | Alleles | Mutation | Mass spectrometry | Job's syndrome | Deoxyribonucleic acid--DNA
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