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Frontiers in Immunology, ISSN 1664-3224, 07/2017, Volume 8, p. 847
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading to life-threatening infections, autoimmunity, and/or malignancies.... 
Next-generation sequencing | Gene panels | Whole exome sequencing | Genomics | Primary immunodeficiency | next-generation sequencing | IMMUNE-DEFICIENCY | CLASSIFICATION | IMMUNOLOGY | CELL DEVELOPMENT | whole exome sequencing | GENOME | STEM | DISEASES | MOLECULAR DIAGNOSIS | gene panels | primary immunodeficiency | genomics | COMMON | WHOLE-EXOME | MUTATIONS
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 03/2014, Volume 66, pp. S183 - S183
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4415 - 4420
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome... 
MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNITY | ACTIVATOR | INTERFERON-GAMMA | MYCOBACTERIAL DISEASE | ALPHA/BETA | MENDELIAN SUSCEPTIBILITY | CLINICAL-FEATURES | DEFICIENCY | SIGNAL TRANSDUCER | INBORN-ERRORS | Bacteremia - immunology | Genetic Diseases, Inborn - microbiology | STAT2 Transcription Factor - immunology | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - virology | Male | Cytomegalovirus Infections - immunology | Cytomegalovirus Infections - genetics | Bacteremia - microbiology | Streptococcal Infections - genetics | Phosphorylation - genetics | Female | Phosphorylation - immunology | Receptor, Interferon alpha-beta - genetics | Fibroblasts - microbiology | Mycobacterium Infections, Nontuberculous - immunology | Immunologic Deficiency Syndromes - immunology | Receptors, Interferon - genetics | Fibroblasts - virology | Genetic Diseases, Inborn - immunology | Viremia - genetics | Viridans Streptococci - immunology | Bacteremia - genetics | Immunologic Deficiency Syndromes - virology | STAT1 Transcription Factor - genetics | Immunologic Deficiency Syndromes - microbiology | STAT1 Transcription Factor - immunology | Cytomegalovirus - immunology | Mycobacterium abscessus - immunology | Receptor, Interferon alpha-beta - immunology | Receptors, Interferon - immunology | Viremia - virology | STAT2 Transcription Factor - genetics | Immunologic Deficiency Syndromes - genetics | Fibroblasts - immunology | Viremia - immunology | Streptococcal Infections - immunology | Mutation | Mycobacterium Infections, Nontuberculous - genetics | Virus diseases | Usage | Immunotherapy | Genetic aspects | Disease susceptibility | Research | Mutation (Biology) | Stat2 protein | Cytomegalovirus | Phosphorylation | Viremia | Immunodeficiency | Stop codon | C-Terminus | Gene deletion | Bacteremia | Nuclear transport | α-Interferon | Clonal deletion | Fibroblasts | Interferon | Codons | Stat1 protein | Viral infections
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 05/2019, Volume 7, Issue 5, pp. 1631 - 1632
[...]boosting their antipneumococcal immunity is important to prevent respiratory infections. The patient had a history of severe recurrent infections... 
ALLERGY | IMMUNOLOGY | Neonates | Pneumonia | Candidiasis | Hypersensitivity | Stat3 protein | Septic shock | Infections | Vaccines | Cellulitis | Patients | Polysaccharides | Abscesses | Ventilation | Otitis media | Peritonitis
Journal Article
The journal of allergy and clinical immunology. In practice, ISSN 2213-2198, 07/2019
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2014, Volume 31, Issue 6, pp. e118 - e119
The S coring of A topic D ermatitis ( SCORAD ) index is a widely applied instrument for measuring the severity of atopic dermatitis ( AD ), but few studies... 
PEDIATRICS | SEVERITY | DERMATOLOGY | Severity of Illness Index | Pediatrics | Cross-Sectional Studies | Dermatology | Humans | Child, Preschool | Infant | Male | Dermatitis, Atopic - classification | Dermatitis, Atopic - diagnosis | Biomedical Research | Female | Child | Children | Atopic dermatitis | Health aspects
Journal Article
Revista chilena de infectología, ISSN 0716-1018, 02/2016, Volume 33, Issue 1, pp. 12 - 18
Introducción: La incidencia de enfermedad de Kawasaki (EK) en Chile ha aumentado; sin embargo, la distribución detallada de los casos en el país es... 
INFECTIOUS DISEASES
Journal Article
Revista Chilena de Infectologia, ISSN 0716-1018, 02/2016, Volume 33, Issue 1, pp. 12 - 18
Journal Article
Revista chilena de infectología, ISSN 0716-1018, 02/2016, Volume 33, Issue 1, pp. 12 - 18
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 07/2012, Volume 10, Issue S1, pp. A90 - A90
Journal Article
Revista chilena de infectología, ISSN 0716-1018, 10/2016, Volume 33, Issue 5, pp. 537 - 542
La infección por virus respiratorio sincicial humano (VRS) es una de las principales causas de morbimortalidad en población pediátrica. La respuesta inmune... 
INFECTIOUS DISEASES
Journal Article
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