Rare monogenic inborn errors of immunity. Medical search. Frequent questions

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Anatomy8

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

Organisms3

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

Diseases45

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 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 Genetic Diseases, Inborn Hyperoxaluria, Primary Renal Tubular Transport, Inborn Errors Immunologic Deficiency Syndromes Disease Models, Animal Intellectual Disability Nervous System Diseases Liver Diseases Hypersensitivity, Delayed

Chemicals and Drugs32

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 Ornithine-Oxo-Acid Transaminase Acyl-CoA Dehydrogenase Uroporphyrinogen III Synthetase Argininosuccinate Lyase Interferon-gamma Phenylalanine Hydroxylase Ornithine Acyl-CoA Dehydrogenases Antibodies, Viral Cytokines Amino Acids Oxidoreductases Immunoglobulin G Adjuvants, Immunologic Vitamin B 12 Urea Vaccines, DNA

Analytical, Diagnostic and Therapeutic Techniques and Equipment18

Neonatal Screening Diagnostic Errors Pedigree Phlebotomy Vaccination Blood Specimen Collection Diet, Protein-Restricted Reproducibility of Results Lymphocyte Activation Models, Biological Disease Models, Animal Tandem Mass Spectrometry Reference Values DNA Mutational Analysis Mass Spectrometry Genetic Therapy Magnetic Resonance Spectroscopy Gas Chromatography-Mass Spectrometry

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes24

Immunity Immunity, Innate Immunity, Cellular Adaptive Immunity Immunity, Mucosal Immunity, Humoral Mutation Plant Immunity Immunity, Maternally-Acquired Immunity, Herd Homozygote Base Sequence Phenotype Amino Acid Sequence Consanguinity Time Factors Diet, Protein-Restricted Antibody Formation Lymphocyte Activation Mutation, Missense Algorithms Heterozygote Metabolic Networks and Pathways Immunologic Memory

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Algorithms

Named Groups1

Infant, Newborn

Health Care6

Neonatal Screening Diagnostic Errors Critical Pathways Vaccination Technology Assessment, Biomedical Reproducibility of Results

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 Phenylketonurias Smith-Lemli-Opitz Syndrome Adaptive Immunity 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 Methylmalonic Acid Mutation 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 Amidinotransferases Failure to Thrive Metal Metabolism, Inborn Errors Hyperargininemia Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Alkaptonuria Rare Diseases Immunity, Maternally-Acquired Citrullinemia Multiple Acyl Coenzyme A Dehydrogenase Deficiency Molecular Sequence Data Mucopolysaccharidoses Metabolic Diseases Iron Metabolism Disorders Pyruvate Dehydrogenase Complex Deficiency Disease Adenylosuccinate Lyase Mice, Inbred C57BL Lysosomal Storage Diseases Neuroaxonal Dystrophies Ornithine-Oxo-Acid Transaminase Genetic Diseases, Inborn Hyperoxaluria, Primary Mice, Inbred BALB C Acyl-CoA Dehydrogenase Renal Tubular Transport, Inborn Errors Pedigree Uroporphyrinogen III Synthetase Argininosuccinate Lyase Immunity, Herd Homozygote Base Sequence T-Lymphocytes Dendritic Cells Mice, Knockout Phenotype Immunologic Deficiency Syndromes Critical Pathways Phlebotomy Vaccination Interferon-gamma CD8-Positive T-Lymphocytes Amino Acid Sequence Fibroblasts Blood Specimen Collection Consanguinity Time Factors Phenylalanine Hydroxylase Diet, Protein-Restricted Technology Assessment, Biomedical Antibody Formation Ornithine Reproducibility of Results Acyl-CoA Dehydrogenases

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