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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Allergy and Immunology | immune repertoire | autoimmunity | V(D)J recombination | genotype-phenotype correlation | Recombination-activating gene 1 | severe combined immune deficiency | Omenn syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Genetic Association Studies | Homeodomain Proteins - metabolism | Humans | V(D)J Recombination | Child, Preschool | Infant | Severe Combined Immunodeficiency - immunology | Homeodomain Proteins - genetics | Severe Combined Immunodeficiency - genetics | Phenotype | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Gene Rearrangement | Alleles | Severe Combined Immunodeficiency - metabolism | T-Lymphocytes - immunology | Mutation | Child | Gene Order | B-Lymphocytes - metabolism | Immunoglobulin Heavy Chains - genetics | Infant, Newborn | Proteins | Autoimmunity | Analysis | Children's hospitals | Genes | Immunodeficiency | Genetic research | Genetic aspects | T cells | Genotype & phenotype | Lymphocytes | Protein expression | Patients | Index Medicus | Abridged Index Medicus
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The Journal of pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 6, pp. 1475 - 1480.e2
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Prospective Studies | Age Factors | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Young Adult | Chromosomes, Human, Pair 22 - genetics | Time Factors | Abnormalities, Multiple - epidemiology | Adult | Female | Retrospective Studies | Child | Developmental Disabilities - diagnosis | DiGeorge Syndrome - genetics | Infant, Newborn | Severity of Illness Index | DiGeorge Syndrome - therapy | Risk Assessment | Delayed Diagnosis | Disease Progression | Developmental Disabilities - epidemiology | DiGeorge Syndrome - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Sex Factors | Monitoring, Physiologic - methods | Early Diagnosis | Children's hospitals | Medical genetics | Index Medicus | Abridged Index Medicus
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Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 948 - 951.e5
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Diagnosis, Differential | Gene Expression | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Immunophenotyping | Severe Combined Immunodeficiency - genetics | Skin Diseases - diagnosis | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Biopsy | Janus Kinase 3 - genetics | Female | T-Lymphocytes - immunology | Mutation | Granuloma - diagnosis | Janus Kinase 3 - metabolism | B-Lymphocytes - metabolism | Genetic aspects | Skin | Children | Health aspects | Children's hospitals | Immunodeficiency | Phosphorylation | Immunoglobulins | Diarrhea | T cell receptors | Infections | Genomes | Patients | DNA repair | Blood | Proteins | Lymphocytes | Protein expression | Tetanus | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 128, Issue 4, pp. 897 - 900.e1
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Immunologic Deficiency Syndromes - pathology | Immunologic Deficiency Syndromes - therapy | Monocytes | Dendritic Cells | Killer Cells, Natural | Humans | B-Lymphocytes | Hematopoietic Stem Cell Transplantation | Female | Infant | Transplantation, Homologous | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Rodents | Lung diseases | Bone marrow | Ligands | Infections | Mutation | Patients | Age | Immune system | Defects | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2010, Volume 126, Issue 1, pp. 127 - 132.e7
Allergy and Immunology | immune deficiency | recurrent infections | 5′ untranslated region mutation | NEMO | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Development | 5′ untranslated region mutation
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1368 - 1375.e8
Allergy and Immunology | senescence | immune reconstitution | ADA-SCID | Gene therapy | cell cycle | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Purines and pyrimidines (gout, hyperuricemia...) | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Other metabolic disorders | Biological and medical sciences | Metabolic diseases | Medical sciences | T-Lymphocyte Subsets - immunology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Transplantation, Autologous | Case-Control Studies | Transplantation, Homologous | Retroviridae - genetics | Bone Marrow Transplantation | Adult | Granulocytes - pathology | Adenosine Deaminase - deficiency | Child | Telomere - genetics | Cellular Senescence - genetics | Receptors, Antigen, T-Cell, gamma-delta - metabolism | Adenosine Deaminase - genetics | Agammaglobulinemia - therapy | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - genetics | T-Lymphocyte Subsets - pathology | Cell Cycle | Immunologic Memory | Adenosine Deaminase - immunology | Genetic Therapy - methods | Adenosine | Fluorescein | Bone marrow | Genetic research | Transplantation | T cells | Hematopoietic stem cells | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 3, pp. 1060 - 1073.e3
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Clinical immunology (Orlando, Fla.), ISSN 1521-6616, 2016, Volume 173, pp. 121 - 123
Allergy and Immunology | EBV viremia | Hypomorphic mutation | RAG1 | Humoral defect | Life Sciences & Biomedicine | Immunology | Science & Technology | Common Variable Immunodeficiency - immunology | Nasal Polyps - immunology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Common Variable Immunodeficiency - genetics | Male | Homeodomain Proteins - genetics | Phenotype | B-Lymphocytes - immunology | Nasal Polyps - genetics | Mutation | Child | Agammaglobulinemia | Genetic aspects | B cells
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Pediatrics (Evanston), ISSN 0031-4005, 07/2006, Volume 118, Issue 1, p. 381
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