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Current opinion in allergy and clinical immunology, ISSN 1528-4050, 2013, Volume 13, Issue 6, pp. 630 - 638
PURPOSE OF THE REVIEWTo review the recent advances in the understanding and management of the immune and nonimmune effects of inherited adenosine deaminase... 
Purine nucleoside phosphorylase | Systemic | Adenosine deaminase | Immunodeficiency | systemic | SEVERE COMBINED IMMUNODEFICIENCY | BONE-MARROW-TRANSPLANTATION | COMBINED IMMUNE-DEFICIENCY | IMMUNOLOGY | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | PERFORMANCE LIQUID-CHROMATOGRAPHY | IN-VITRO | ALLERGY | adenosine deaminase | purine nucleoside phosphorylase | INTRACELLULAR DELIVERY | immunodeficiency | GENE-THERAPY | STEM-CELL TRANSPLANTATION | Purine-Nucleoside Phosphorylase - immunology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | T-Lymphocytes - enzymology | Humans | Severe Combined Immunodeficiency - mortality | Purine-Nucleoside Phosphorylase - genetics | Purkinje Cells - enzymology | Purine-Pyrimidine Metabolism, Inborn Errors - mortality | Lymphocyte Activation - genetics | Lymphocyte Activation - immunology | Agammaglobulinemia - drug therapy | Agammaglobulinemia - enzymology | Purine-Nucleoside Phosphorylase - deficiency | Purine-Nucleoside Phosphorylase - therapeutic use | Adenosine Deaminase - therapeutic use | Adenosine Deaminase - deficiency | Purkinje Cells - immunology | Macrophages, Alveolar - immunology | Purine-Pyrimidine Metabolism, Inborn Errors - diet therapy | Enzyme Replacement Therapy | Severe Combined Immunodeficiency - enzymology | Adenosine Deaminase - genetics | Purines - metabolism | Agammaglobulinemia - mortality | Severe Combined Immunodeficiency - drug therapy | Purine-Pyrimidine Metabolism, Inborn Errors - enzymology | Severe Combined Immunodeficiency - immunology | Macrophages, Alveolar - enzymology | Purines - immunology | Severe Combined Immunodeficiency - genetics | Animals | Purine-Pyrimidine Metabolism, Inborn Errors - immunology | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | T-Lymphocytes - immunology | Adenosine Deaminase - immunology | Index Medicus
Journal Article
Blood, ISSN 1528-0020, 2014, Volume 123, Issue 22, pp. 3390 - 3397
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2017, Volume 112, Issue 3, pp. 368a - 368a
Journal Article
Journal Article
Magnetic Resonance in Chemistry, ISSN 0749-1581, 09/2018, Volume 56, Issue 9, pp. 852 - 859
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 155 - 159.e3
Background Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect... 
Allergy and Immunology | Purine nucleoside phosphorylase | tandem mass spectrometry | delayed-onset | inherited disorder | purine nucleoside phosphorylase–combined immunodeficiency | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | purine nucleoside phosphorylase-combined immunodeficiency | IMMUNOLOGY | ALLERGY | PATIENT | MUTATIONS | ADENOSINE-DEAMINASE DEFICIENCY | Immunologic Deficiency Syndromes - pathology | Dried Blood Spot Testing | Humans | Child, Preschool | Infant | Male | Deoxyguanosine - analysis | Neonatal Screening | Purine-Nucleoside Phosphorylase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Tandem Mass Spectrometry | Purine-Nucleoside Phosphorylase - deficiency | Inosine - analogs & derivatives | Female | Immunologic Deficiency Syndromes - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - pathology | Infant, Newborn | Guanosine - analysis | Inosine - analysis | Inosine - metabolism | Guanosine - metabolism | Lymphocytes - pathology | DNA Repair | Adolescent | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Immunologic Deficiency Syndromes - genetics | Deoxyguanosine - metabolism | Mutation | Enzymes | Alkaloids | Neurosciences | Immunodeficiency | Nucleosides | Diagnosis | Children | Health aspects | Mass spectrometry | Genotype & phenotype | Metabolites | Disease | Newborn babies | Mortality | Infections | Medical screening | Patients | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article
Biophysical Journal, ISSN 0006-3495, 01/2015, Volume 108, Issue 2, pp. 27a - 27a
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2009, Volume 374, Issue 9701, pp. 1617 - 1625
Journal Article
Nature (London), ISSN 1476-4687, 2013, Volume 497, Issue 7448, pp. 217 - 223
The mammalian target of rapamycin (mTOR), a phosphoinositide 3-kinase-related protein kinase, controls cell growth in response to nutrients and growth factors... 
MAMMALIAN TARGET | RAPAMYCIN | RAPTOR | BINDING PARTNER | RAG GTPASES | RHEB | PATHWAY | TOR | MULTIDISCIPLINARY SCIENCES | CELL-GROWTH | P70 S6 KINASE | Adaptor Proteins, Signal Transducing - chemistry | Catalytic Domain - drug effects | TOR Serine-Threonine Kinases - metabolism | Pyridines - chemistry | Furans - pharmacology | Humans | Crystallography, X-Ray | Structure-Activity Relationship | Pyrimidines - chemistry | TOR Serine-Threonine Kinases - antagonists & inhibitors | Indoles - metabolism | Furans - chemistry | Adenosine Triphosphate - metabolism | Indoles - pharmacology | Tacrolimus Binding Protein 1A - pharmacology | Naphthyridines - chemistry | Ribosomal Protein S6 Kinases, 70-kDa - metabolism | Purines - metabolism | Purines - pharmacology | MTOR Associated Protein, LST8 Homolog | Tacrolimus Binding Protein 1A - chemistry | Models, Molecular | Magnesium - metabolism | Pyrimidines - pharmacology | Sirolimus - metabolism | Sirolimus - pharmacology | Magnesium - chemistry | Purines - chemistry | TOR Serine-Threonine Kinases - chemistry | Tacrolimus Binding Protein 1A - metabolism | Pyridines - pharmacology | Sirolimus - chemistry | Adaptor Proteins, Signal Transducing - metabolism | Adenosine Triphosphate - chemistry | Indoles - chemistry | Naphthyridines - pharmacology | Naphthyridines - metabolism | Protein Structure, Tertiary - drug effects | Proteins | Enzymes | Kinases | Crystal structure
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2019, Volume 366, Issue 6461, pp. 76 - 82