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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 6, pp. 1558 - 1568.e2
Background Invasive infections of the central nervous system (CNS) or digestive tract caused by commensal fungi of the genus Candida are rare and... 
Allergy and Immunology | colitis | inherited CARD9 deficiency | invasive fungal diseases | primary immunodeficiency | Inborn error of immunity | Candida species | human | central nervous system | CHRONIC GRANULOMATOUS-DISEASE | IMMUNOLOGY | CEREBROSPINAL-FLUID | CHRONIC MUCOCUTANEOUS CANDIDIASIS | FUNGAL-INFECTIONS | INBORN-ERRORS | HYPER-IGE SYNDROME | CEREBRAL CANDIDIASIS | MASS LESION | ALLERGY | CENTRAL-NERVOUS-SYSTEM | IL-17 IMMUNITY | Colitis - genetics | Humans | CARD Signaling Adaptor Proteins - deficiency | Central Nervous System - pathology | Colitis - pathology | Male | Candidiasis, Invasive - genetics | Genetic Loci | Central Nervous System - immunology | Gastrointestinal Tract - pathology | CARD Signaling Adaptor Proteins - genetics | Meningoencephalitis - immunology | Gastrointestinal Tract - immunology | Adult | Female | Candida - immunology | Candidiasis, Invasive - pathology | Colitis - immunology | Child | Central Nervous System - microbiology | CARD Signaling Adaptor Proteins - immunology | Gene Expression | Genome-Wide Association Study | Meningoencephalitis - genetics | Gastrointestinal Tract - microbiology | Sequence Analysis, DNA | Homozygote | Colitis - microbiology | Candidiasis, Invasive - immunology | Pedigree | Meningoencephalitis - microbiology | Meningoencephalitis - pathology | Adolescent | Consanguinity | Candidiasis, Invasive - microbiology | Immunodeficiency | Mycoses | Respiratory tract diseases | Cross infection | Colitis | Nosocomial infections | Meningoencephalitis | Substance abuse treatment | Nuclear magnetic resonance--NMR | Headaches | Infections | Patients | Proteins | Inflammatory bowel disease | Infectious diseases | Plasmids | Biopsy | Vomiting | Deaths | Mutation | Age | Life Sciences | Allergology | Immunology
Journal Article
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
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, 2015, Volume 136, Issue 5, pp. 1139 - 1149
Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10... 
Allergy and Immunology | mucosa-associated lymphoid tissue lymphoma-translocation gene 1 | B-cell lymphoma 10 | caspase recruitment domain 9 | CARMA1 | combined immunodeficiency | Primary immunodeficiency | INDUCED ACTIVATION | T-CELL | BCL10 | IMMUNOLOGY | MALT LYMPHOMA | ALLERGY | Primaryimmunodeficiency | IMMUNE-RESPONSES | RECEPTORS ENGAGE | MUTATIONS | NF-KAPPA-B | INHERITED CARD9 DEFICIENCY | Adaptive Immunity | Genetic Predisposition to Disease | Caspases - genetics | Humans | Mycoses - genetics | Immunity, Innate | Mutation - genetics | Neoplasm Proteins - metabolism | CARD Signaling Adaptor Proteins - genetics | Mice, Knockout | Polymorphism, Genetic | CARD Signaling Adaptor Proteins - metabolism | Animals | Caspases - metabolism | B-Cell CLL-Lymphoma 10 Protein | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Guanylate Cyclase - genetics | Mice | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Adaptor Proteins, Signal Transducing - metabolism | Neoplasm Proteins - genetics | Immunogenetics | Gene mutations | Genes | Genetic research | Mycoses | Genetic aspects | Lymphomas | Cancer | Cytomegalovirus | Immunoglobulins | Amino acids | Kinases | Patients | Streptococcus infections | Proteins | Inflammatory bowel disease | Lymphocytes | Biopsy | Mutation | Tetanus | Age
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 3, pp. 610 - 617.e4
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1019 - 1027
Signal transducer and activator of transcription (STAT) proteins are key components of the innate and adaptive immune responses to pathogenic microorganisms.... 
Allergy and Immunology | Primary immunodeficiency diseases | Staphylococcus species | Candida species | signal transducer and activator of transcription | signal transducer and activator of transcription 1 and 3 | IL-17 | STAT3 MUTATIONS | X-LINKED AGAMMAGLOBULINEMIA | PRIMARY IMMUNODEFICIENCIES | IMMUNOLOGY | INBORN-ERRORS | FUNGAL-INFECTIONS | HYPER-IGE SYNDROME | SYNDROME TYPE-I | ALLERGY | HOST-DEFENSE MECHANISMS | CELL-DIFFERENTIATION | SIGNAL TRANSDUCER | Staphylococcus - immunology | Skin - microbiology | Humans | Male | Risk | STAT Transcription Factors - immunology | Young Adult | Female | Candida - immunology | Candidiasis - immunology | Immunologic Deficiency Syndromes - immunology | Child | Immunity, Mucosal - genetics | Skin - pathology | Skin - immunology | Genetic Predisposition to Disease | Polyendocrinopathies, Autoimmune | Immunologic Deficiency Syndromes - complications | Signal Transduction | Staphylococcal Infections - immunology | Polymorphism, Genetic | STAT Transcription Factors - genetics | Animals | Candidiasis - etiology | Immunologic Deficiency Syndromes - genetics | Staphylococcal Infections - etiology | Proteins | Medical colleges | Gene mutations | Immunodeficiency | Bacteria | Children | Diseases | Medical research | Bacterial infections | Disease | Herpes viruses | Mortality | Infections | Accreditation | Skin | Mutation | Kinases | Gene expression | Defects | Fungi | Microorganisms | Immune response | Molecular modelling | Cytokines | Transcription | Stat3 protein | Stat1 protein | Immunity | Stat protein
Journal Article
Journal Article
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article