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Nature Medicine, ISSN 1078-8956, 10/2008, Volume 14, Issue 10, pp. 1097 - 1105
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 12/2014, Volume 1842, Issue 12, pp. 2517 - 2527
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. S182 - S194
In the last years, advances in molecular genetics and immunology have resulted in the identification of a growing number of genes causing primary... 
Allergy and Immunology | innate immunity defects | hematopoietic cell transplantation | T-cell immunodeficiency | antibody deficiency | gene therapy | Primary immunodeficiency | immunoglobulin replacement therapy | CLASS SWITCH RECOMBINATION | CHRONIC GRANULOMATOUS-DISEASE | BONE-MARROW-TRANSPLANTATION | COMBINED IMMUNE-DEFICIENCY | WISKOTT-ALDRICH-SYNDROME | COMMON VARIABLE IMMUNODEFICIENCY | ADENYLATE KINASE 2 | IMMUNOLOGY | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | ALLERGY | ADENOSINE-DEAMINASE DEFICIENCY | STEM-CELL TRANSPLANTATION | Genetic Therapy | Immunologic Deficiency Syndromes - therapy | Genetic Predisposition to Disease | Genetic Testing | Immunity, Cellular - genetics | Humans | Immunity, Innate - genetics | Hematopoietic Stem Cell Transplantation | Polymorphism, Genetic | Animals | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Infant, Newborn | Tyrosine | Phosphates | Niacinamide | Coenzymes | Adenosine | Genetic disorders | Bacterial infections | Dendritic cells | Molecular genetics | Peptides | Immunodeficiency | Immunoglobulin E | Transplantation | Immunoglobulin A | T cells | Hematopoietic stem cells | Diseases | Purines | Pyrimidines | Cyclophilin | Analysis | Lectins | Children | Enzymes | Cytomegalovirus | Cytokines | Pathogenesis | Defects | Streptococcus infections | Human subjects | Genotype & phenotype | Antibiotics | Lymphocytes | Medical prognosis | Immune system | Apoptosis
Journal Article
Journal Article
Nature, ISSN 0028-0836, 05/2012, Volume 485, Issue 7399, pp. 512 - 516
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 5, pp. 1299 - 1309
Background Atopic eczema (AE) is characterized by skin barrier and immune dysfunction. Null mutations in filaggrin (FLG), a key epidermal barrier protein,... 
Allergy and Immunology | dermatitis | cyclophilin A | skin | proteomic | kallikrein-7 | filaggrin | Atopic eczema | BARRIER | STRATUM-CORNEUM | IMMUNOLOGY | GENE | ALLERGY | STAPHYLOCOCCUS-AUREUS | MUTATIONS | PROTEASE ACTIVITY | EXPRESSION | CYCLOPHILIN | CYCLOSPORINE | Cyclophilin A - metabolism | RNA, Small Interfering - genetics | Dermatitis, Atopic - genetics | Humans | Cells, Cultured | Gene Expression Regulation | Kallikreins - genetics | Transcriptome | Proteome | Inflammation - immunology | Cofilin 1 - genetics | Keratinocytes - pathology | Cofilin 1 - metabolism | Keratinocytes - metabolism | Proteolysis | Mass Spectrometry | Dermatitis, Atopic - immunology | Intermediate Filament Proteins - genetics | Chromatography, Liquid | Cytoskeleton - metabolism | Inflammation - genetics | Cyclophilin A - genetics | Kallikreins - metabolism | Loss of Function Mutation - genetics | Proteins | RNA | Eczema | Kallikrein | Skin | Liquid chromatography | Mass spectrometry | Transcription | Pathogenesis | Cytology | Filaggrin | Kinases | Dermatitis | Western blotting | Atopy | Protein folding | Consent | Cofilin | Skin diseases | Mass spectroscopy | Inflammation | Gene expression | Ribonucleic acid--RNA | Patients | Polymerase chain reaction | Studies | Biopsy | Cytoskeleton | Mutation | Immunofluorescence | Health risk assessment | Binding sites | LSE, Living skin equivalent | shFLG, Filaggrin knockdown short hairpin RNA | shNT, Nontargeting control short hairpin RNA | ANXA3, Annexin A3 | CFL1, Cofilin-1 | eIF, Eukaryotic initiation factor | IPA, Ingenuity Pathway Analysis | TXN, Thioredoxin | FLG, Filaggrin | KLK7, Kallikrein-7 | PPIA, Cyclophilin A | AE, Atopic eczema | RT-qPCR, Quantitative RT-PCR | mTOR, Mammalian target of rapamycin | VIM, Vimentin | CTSV, Cathepsin V
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2019, Volume 508, Issue 4, pp. 1202 - 1208
Journal Article