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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2008, Volume 122, Issue 6, pp. 1105 - 1112.e1
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead... 
Allergy and Immunology | regulatory T cells | transcription factor | Immune dysregulation | autoimmunity | immunosuppressive treatment | polyendocrinopathy | enteropathy | X-linked syndrome | FOXP3 | bone marrow transplantation | Forkhead Transcription Factors - immunology | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Polyendocrinopathies, Autoimmune - therapy | Male | Intestinal Diseases - immunology | DNA Mutational Analysis - methods | Mutation - immunology | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Immunologic Deficiency Syndromes - therapy | Gene Expression Regulation - genetics | Gene Expression Regulation - immunology | Intestinal Diseases - genetics | Genotype | Protein Structure, Tertiary - genetics | Forkhead Transcription Factors - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Intestinal Diseases - therapy | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Phenotype | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, X-Linked - therapy | Genetic disorders | Stem cells | Bone marrow | Cystic fibrosis | Transplantation | Diabetes | Gene therapy | Antitank weapons | Proteins | Genotype & phenotype | Transplants & implants | Disease | Genes | Protein expression | Mutation | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 6, pp. 1475 - 1480.e2
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1638 - 1641.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1394 - 1399
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, 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
Clinical Therapeutics, ISSN 0149-2918, 2009, Volume 31, Issue 6, pp. 1266 - 1273
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 2010, Volume 104, Issue 5, pp. 417 - 419
Background Clarithromycin is one of the most frequently prescribed oral macrolidic antibiotics in the pediatric population. Suspected adverse reactions to... 
Allergy and Immunology | PROFILE | IMMUNOLOGY | ALLERGY | HYPERSENSITIVITY | Skin Tests | Clarithromycin - adverse effects | Humans | Bronchial Provocation Tests | Child, Preschool | Male | Sensitivity and Specificity | Adolescent | Drug Hypersensitivity - diagnosis | Female | Italy | Anti-Bacterial Agents - adverse effects | Child
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 387, Issue 10031, pp. 1967 - 1968
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(16)00085-4 Byline: Giuseppe Indolfi, Giusi Mangone, Elisa... 
Internal Medicine | Recurrence | Hepatitis C, Chronic - transmission | Virus Replication | Humans | Hepacivirus - physiology | Infant | Male | Remission, Spontaneous | RNA, Viral - metabolism | Infectious Disease Transmission, Vertical | Child | Viral Load | Hepatitis C | Plasma | Hepatitis | Pathology | Disease transmission | Viral infections | Children & youth
Journal Article
Journal Article