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Nature Immunology, ISSN 1529-2908, 2018, Volume 19, Issue 9, pp. 906 - 907
In the current issue of Nature Immunology, Casanova and colleagues demonstrate that humans (and mouse models) with autosomal-recessive SPPL2a deficiency have a... 
Memory cells | Animal models | Immunological memory | Cell survival | Secretion | BCG | Interleukin 12 | Interleukin 23 | Lymphocytes T | Vaccines | Immunology | Lymphocytes | γ-Interferon
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2/2014, Volume 34, Issue 2, pp. 129 - 129
Journal Article
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. 1335 - 1335
Abstract Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system due to defective Fas-mediated apoptosis which usually presents... 
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 5, pp. 1629 - 1640.e2
Background Gain-of-function (GOF) mutations in the human signal transducer and activator of transcription 1 (STAT1) manifest in immunodeficiency and... 
Allergy and Immunology | IFN-γ | autoimmunity | follicular T helper cell | TH1 cell | STAT1 gain of function | TH17 cell | T helper cell polarization | ruxolitinib | T | 17 cell | 1 cell | T(H)1 cell | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | DEFICIENCY | INBORN-ERRORS | IMMUNE DYSREGULATION | IFN-gamma | ALLERGY | T(H)17 cell | DNA | DISEASE | IL-17 IMMUNITY | DIFFERENTIATION | BINDING | IMMUNODEFICIENCY | Th1 Cells - drug effects | Purpura, Thrombocytopenic, Idiopathic - genetics | Candidiasis, Chronic Mucocutaneous - genetics | Humans | Candidiasis, Chronic Mucocutaneous - immunology | Anemia, Hemolytic, Autoimmune - genetics | STAT1 Transcription Factor - genetics | Th1 Cells - immunology | STAT1 Transcription Factor - immunology | Janus Kinases - antagonists & inhibitors | Th17 Cells - drug effects | Purpura, Thrombocytopenic, Idiopathic - immunology | Anemia, Hemolytic, Autoimmune - immunology | Th17 Cells - immunology | Female | Protein Kinase Inhibitors - pharmacology | Mutation | Child | Autoimmunity - drug effects | Cytokines - immunology | Pyrazoles - pharmacology | Autoimmunity | Medical colleges | Immunodeficiency | Stem cells | Bone marrow | Genetic aspects | Transplantation | Interferon | Genetic transcription | Cell differentiation | Polarization | Phosphorylation | Candidiasis | Inhibitor drugs | Transcription | Syngeneic grafts | Differentiation (biology) | Helper cells | Bone marrow transplantation | Stem cell transplantation | Infections | Lymphocytes T | Dephosphorylation | Kinases | Immunology | Lymphocytes | Janus kinase | Remission | Drug therapy | Stat1 protein | Chronic mucocutaneous candidiasis | Functional analysis | Disease control | Patients | Hemopoiesis | Inhibitors | Kinetics | Autoimmune diseases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1624 - 1634.e17
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 365 - 371
Journal Article
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 12/2019, Volume 144, Issue 6, pp. 1516 - 1517
Journal Article
by Marciano, Beatriz E., MD and Huang, Chiung-Yu, PhD and Joshi, Gyan, PhD and Rezaei, Nima, MD and Carvalho, Beatriz Costa, MD and Allwood, Zoe, MD and Ikinciogullari, Aydan, MD and Reda, Shereen M., MD and Gennery, Andrew, MD and Thon, Vojtech, MD and Espinosa-Rosales, Francisco, MD and Al-Herz, Waleed, MD and Porras, Oscar, MD and Shcherbina, Anna, MD and Szaflarska, Anna, MD and Kiliç, Şebnem, MD and Franco, Jose L., MD, PhD and Gómez Raccio, Andrea C., MD and Roxo, Persio, MD and Esteves, Isabel, MD and Galal, Nermeen, MD and Grumach, Anete Sevciovic, MD, PhD and Al-Tamemi, Salem, MD and Yildiran, Alisan, MD and Orellana, Julio C., MD and Yamada, Masafumi, MD and Morio, Tomohiro, MD and Liberatore, Diana, MD and Ohtsuka, Yoshitoshi, MD and Lau, Yu-Lung, MD and Nishikomori, Ryuta, MD and Torres-Lozano, Carlos, MD and Mazzucchelli, Juliana T.L., MD and Vilela, Maria M.S., MD and Tavares, Fabiola S., MD and Cunha, Luciana, MD and Pinto, Jorge A., MD and Espinosa-Padilla, Sara E., MD and Hernandez-Nieto, Leticia, MD and Elfeky, Reem A., MD and Ariga, Tadashi, MD and Toshio, Heike, MD and Dogu, Figen, MD and Cipe, Funda, MD and Formankova, Renata, MD and Nuñez-Nuñez, M. Enriqueta, MD and Bezrodnik, Liliana, MD and Marques, Jose Gonçalo, MD and Pereira, María I., PhD and Listello, Viviana, MD and Slatter, Mary A., MD and Nademi, Zohreh, MD and Kowalczyk, Danuta, MD and Fleisher, Thomas A., MD and Davies, Graham, MD and Neven, Bénédicte, MD and Rosenzweig, Sergio D., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1134 - 1141
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Biological Sciences | NF-κB pathway
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2017, Volume 49, Issue 8, pp. 1192 - 1201
Journal Article