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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 | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1604 - 1610
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB112 - AB112
  Genomic DNA was utilized to sequence the ADA gene, and an identified missense variant was sequenced in sorted peripheral blood cell subpopulations. 
Allergy and Immunology | T cells | Health aspects | Adenosine | Infections | Mutation | Lymphocytes | Viral infections | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 1, pp. 283 - 287.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 5, pp. 1610 - 1613.e7
  To the Editor: Nucleic acid aptamers are a novel class of drugs that can be selected to inhibit targets of interest, including protein-protein interactions.1... 
Allergy and Immunology | Antigen-antibody reactions | Viral antibodies | Allergy | RNA | Polyethylene glycol | Antibodies | Research institutes | Cardiology | Allergic reaction | Proteins | Enzymes | Immunoglobulins | Cytokines | Laboratories | Acute coronary syndromes | Patients | Allergies
Journal Article
Journal Article
Nucleosides, Nucleotides and Nucleic Acids, ISSN 1525-7770, 07/2008, Volume 27, Issue 6-7, pp. 554 - 556
Journal Article
European Journal of Haematology, ISSN 0902-4441, 10/2007, Volume 79, Issue 4, pp. 338 - 348
Adenosine deaminase (ADA) deficiency is an inherited disorder which leads to elevated cellular levels of deoxyadenosine triphosphate (dATP) and systemic... 
Severe combined immunodeficiency disease | Adenosine deaminase deficiency | Drug delivery systems | Carrier erythrocytes | Enzyme replacement therapy | Erythrocytes | drug delivery systems | SEVERE COMBINED IMMUNODEFICIENCY | enzyme replacement therapy | ABNORMALITIES | BONE-MARROW-TRANSPLANTATION | carrier erythrocytes | erythrocytes | THYMIC OUTPUT | severe combined immunodeficiency disease | IN-VIVO | GENE-THERAPY | HEMATOLOGY | adenosine deaminase deficiency | AGE | Deoxyadenine Nucleotides - metabolism | Immunoglobulin G - blood | Autoantibodies - blood | Humans | Adenosine Deaminase - administration & dosage | Antigens, CD20 - blood | Deoxyadenine Nucleotides - immunology | Severe Combined Immunodeficiency - physiopathology | Time Factors | Immunoglobulin G - immunology | Adult | Female | Erythrocytes - enzymology | Adenosine Deaminase - deficiency | Lung Diseases - enzymology | Erythrocytes - immunology | Antigens, CD20 - immunology | Severe Combined Immunodeficiency - enzymology | Severe Combined Immunodeficiency - drug therapy | Adenosylhomocysteinase - metabolism | Severe Combined Immunodeficiency - immunology | Adenosylhomocysteinase - immunology | Polyethylene Glycols - administration & dosage | Lung Diseases - immunology | Autoantibodies - immunology | Forced Expiratory Flow Rates - drug effects | Lymphocyte Count | Enzymes, Immobilized - administration & dosage | Lung Diseases - physiopathology | Adenosine Deaminase - immunology
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2018, Volume 142, Issue 4, pp. 1363 - 1365.e8
[...]T129 and the preceding N127 together constitute a consensus N-linked glycosylation sequence (NXS/T) required for the attachment of oligosaccharides.6... 
AMINO-ACID | ALLERGEN | MUTATIONS | IMMUNOLOGY | ALLERGY | VASCULOPATHY | Proteins | Enzymes | Adenosine | Mutagenesis | Microscopy | Laboratories | Software | Glycosylation | Mutation | Adenosine deaminase 2 | hemorrhagic stroke | DADA2 | N-linked glycosylation | vasculitis
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2019, Volume 143, Issue 3, pp. 852 - 863
Journal Article
Scandinavian journal of immunology, ISSN 0300-9475, 11/2011, Volume 74, Issue 5, pp. 471 - 481
Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations.... 
Journal Article