Single gene inborn errors of immunity. Medical search. Frequent questions

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Anatomy10

Liver Fibroblasts T-Lymphocytes Dendritic Cells Cells, Cultured CD8-Positive T-Lymphocytes Spleen CD4-Positive T-Lymphocytes Brain Cell Line

Organisms3

Mice, Inbred C57BL Mice, Inbred BALB C Mice, Knockout

Diseases46

Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors Purine-Pyrimidine Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Urea Cycle Disorders, Inborn Brain Diseases, Metabolic, Inborn Argininosuccinic Aciduria Hyperammonemia Phenylketonurias Smith-Lemli-Opitz Syndrome Refractive Errors Candidiasis, Chronic Mucocutaneous Pyruvate Metabolism, Inborn Errors Homocystinuria Fabry Disease Ornithine Carbamoyltransferase Deficiency Disease Hypophosphatasia Genetic Diseases, Inborn Brain Diseases, Metabolic Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Porphyria, Erythropoietic Failure to Thrive Metal Metabolism, Inborn Errors Hyperargininemia Alkaptonuria Rare Diseases Citrullinemia Multiple Acyl Coenzyme A Dehydrogenase Deficiency Mucopolysaccharidoses Metabolic Diseases Iron Metabolism Disorders Pyruvate Dehydrogenase Complex Deficiency Disease Lysosomal Storage Diseases Neuroaxonal Dystrophies Hyperoxaluria, Primary Renal Tubular Transport, Inborn Errors Disease Models, Animal Immunologic Deficiency Syndromes Intellectual Disability Nervous System Diseases Liver Diseases Syndrome Hypersensitivity, Delayed

Chemicals and Drugs37

Homogentisate 1,2-Dioxygenase alpha-Galactosidase Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Hydroxocobalamin Methylmalonic Acid Methylmalonyl-CoA Mutase Pentanoic Acids Oxidoreductases Acting on CH-CH Group Donors Glutarates Carnitine Glutaryl-CoA Dehydrogenase Amidinotransferases Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Adenylosuccinate Lyase DNA Ornithine-Oxo-Acid Transaminase Acyl-CoA Dehydrogenase RNA, Messenger Uroporphyrinogen III Synthetase Argininosuccinate Lyase Interferon-gamma DNA, Complementary Phenylalanine Hydroxylase DNA Primers Ornithine Acyl-CoA Dehydrogenases Oxidoreductases Amino Acids Antibodies, Viral Cytokines Immunoglobulin G Adjuvants, Immunologic Bacterial Proteins Vitamin B 12 Urea Vaccines, DNA

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Neonatal Screening Diagnostic Errors Cloning, Molecular Pedigree Chromosome Mapping Polymerase Chain Reaction Models, Biological Models, Genetic Sequence Analysis, DNA Disease Models, Animal Reproducibility of Results Sequence Alignment Gene Expression Profiling Phlebotomy Genetic Testing Vaccination Blood Specimen Collection DNA Mutational Analysis Genetic Therapy Diet, Protein-Restricted Blotting, Southern Lymphocyte Activation Crosses, Genetic Mass Spectrometry Prenatal Diagnosis Tandem Mass Spectrometry Reference Values Restriction Mapping Models, Statistical Magnetic Resonance Spectroscopy Gas Chromatography-Mass Spectrometry

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes45

Immunity Immunity, Innate Immunity, Cellular Mutation Base Sequence Adaptive Immunity Amino Acid Sequence Immunity, Mucosal Immunity, Humoral Phenotype Plant Immunity Immunity, Maternally-Acquired Homozygote Exons Genes Alleles Time Factors Sequence Homology, Amino Acid Genotype Algorithms Immunity, Herd Alternative Splicing Phylogeny Heterozygote Consanguinity Mutation, Missense Diet, Protein-Restricted Metabolic Networks and Pathways Antibody Formation Gene Expression Regulation Species Specificity Lymphocyte Activation Evolution, Molecular Sequence Homology, Nucleic Acid Multigene Family Transcription, Genetic Signal Transduction Genes, Plant Pregnancy Gene Expression Genetic Vectors Genetic Linkage Gene Deletion RNA Splicing Immunologic Memory

Information Science6

Molecular Sequence Data Base Sequence Amino Acid Sequence Algorithms Phylogeny Computer Simulation

Named Groups1

Infant, Newborn

Health Care8

Neonatal Screening Diagnostic Errors Reproducibility of Results Critical Pathways Genetic Testing Vaccination Technology Assessment, Biomedical Models, Statistical

Geographicals1

Australian Capital Territory

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Named Groups Health Care Geographicals

Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Immunity Lipid Metabolism, Inborn Errors Immunity, Innate Neonatal Screening Immunity, Cellular Purine-Pyrimidine Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Urea Cycle Disorders, Inborn Brain Diseases, Metabolic, Inborn Argininosuccinic Aciduria Hyperammonemia Molecular Sequence Data Phenylketonurias Smith-Lemli-Opitz Syndrome Mutation Base Sequence Adaptive Immunity Amino Acid Sequence Infant, Newborn Refractive Errors Candidiasis, Chronic Mucocutaneous Homogentisate 1,2-Dioxygenase Immunity, Mucosal Pyruvate Metabolism, Inborn Errors alpha-Galactosidase Homocystinuria Fabry Disease Australian Capital Territory Ornithine Carbamoyltransferase Deficiency Disease Argininosuccinic Acid Isovaleryl-CoA Dehydrogenase Hypophosphatasia Immunity, Humoral Diagnostic Errors Hydroxocobalamin Phenotype Methylmalonic Acid Genetic Diseases, Inborn Methylmalonyl-CoA Mutase Pentanoic Acids Brain Diseases, Metabolic Oxidoreductases Acting on CH-CH Group Donors Plant Immunity Fructose Metabolism, Inborn Errors Maple Syrup Urine Disease Porphyria, Erythropoietic Glutarates Carnitine Glutaryl-CoA Dehydrogenase Cloning, Molecular Amidinotransferases Failure to Thrive Metal Metabolism, Inborn Errors Hyperargininemia Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Mice, Inbred C57BL Alkaptonuria Rare Diseases Immunity, Maternally-Acquired Citrullinemia Multiple Acyl Coenzyme A Dehydrogenase Deficiency Pedigree Mucopolysaccharidoses Metabolic Diseases Homozygote Exons Mice, Inbred BALB C Iron Metabolism Disorders Pyruvate Dehydrogenase Complex Deficiency Disease Adenylosuccinate Lyase Lysosomal Storage Diseases Neuroaxonal Dystrophies DNA Ornithine-Oxo-Acid Transaminase Genes Chromosome Mapping Hyperoxaluria, Primary Acyl-CoA Dehydrogenase Mice, Knockout Polymerase Chain Reaction RNA, Messenger Renal Tubular Transport, Inborn Errors Alleles Time Factors Models, Biological Sequence Homology, Amino Acid Liver Models, Genetic Fibroblasts Sequence Analysis, DNA Genotype Algorithms Uroporphyrinogen III Synthetase Argininosuccinate Lyase Immunity, Herd Alternative Splicing Disease Models, Animal

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