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Journal of Allergy and Clinical Immunology, The, 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 | Index Medicus | Abridged Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article
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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 6, pp. 1444 - 1446.e5
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