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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
Neuroimage, ISSN 1053-8119, 2006, Volume 29, Issue 2, pp. 493 - 504
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, p. e1003989
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 3, pp. 457 - 464
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2005, Volume 28, Issue 3, pp. 407 - 414
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 07/2018, Volume 13, Issue 1, pp. 120 - 10
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 6/2018, Volume 33, Issue 3, pp. 875 - 884
Journal Article
Human Mutation, ISSN 1059-7794, 05/2009, Volume 30, Issue 5, pp. 741 - 748
Journal Article
by Jansen, AC and Belousova, E and Benedik, MP and Carter, T and Cottin, V and Curatolo, P and Dahlin, M and D'Amato, L and d'Augeres, GB and de Vries, PJ and Ferreira, JC and Feucht, M and Fladrowski, C and Hertzberg, C and Jozwiak, S and Lawson, JA and Macaya, A and Marques, R and Nabbout, R and O'Callaghan, F and Qin, J and Sander, V and Sauter, M and Shah, S and Takahashi, Y and Touraine, R and Youroukos, S and Zonnenberg, B and Kingswood, JC and Shinohara, N and Horie, S and Kubota, M and Tohyama, J and Imai, K and Kaneda, M and Kaneko, H and Uchida, Y and Kirino, T and Endo, S and Inoue, Y and Uruno, K and Serdaroglu, A and Yapici, Z and Anlar, B and Altunbasak, S and Lvova, O and Belyaev, OV and Agranovich, O and Levitina, EV and Maksimova, YV and Karas, A and Jiang, YW and Zou, LP and Xu, KF and Zhang, YS and Luan, GM and Zhang, YQ and Wang, Y and Jin, ML and Ye, DW and Liao, WP and Zhou, LM and Liu, J and Liao, JX and Yan, B and Deng, YC and Jiang, L and Liu, ZS and Huang, SP and Li, H and Kim, K and Chen, PL and Lee, HF and Tsai, JD and Chi, CS and Huang, CC and Riney, K and Yates, D and Kwan, P and Likasitwattanakul, S and Nabangchang, C and Chomtho, LTK and Katanyuwong, K and Sriudomkajorn, S and Wilmshurst, J and Segel, R and Gilboa, T and Tzadok, M and Fattal-Valevski, A and Papathanasopoulos, P and Papavasiliou, AS and Giannakodimos, S and Gatz, S and Pavlou, E and Tzoufi, M and Vergeer, AMH and Dhooghe, M and Verhelst, H and Roelens, F and Nassogne, MC and ... and TOSCA Investigators and TOSCA Consortium
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 07/2019, Volume 10, p. 705
Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered... 
registry | DIAGNOSIS | MANAGEMENT | tuberous sclerosis complex | EVEROLIMUS | SEGA | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | TOSCA | RECOMMENDATIONS | ANGIOMYOLIPOMA | DISEASE | mTOR | DOUBLE-BLIND | SEVERITY | Medical research | Tuberous sclerosis | Medicine, Experimental | Genetic aspects | Rapamycin | Dosage and administration | Research | Astrocytoma
Journal Article