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Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017
Abstract Background Gain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of...
Allergy and Immunology
Allergy and Immunology
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 2016, Volume 117, Issue 4, pp. 405 - 411
Abstract Background X-linked agammaglobulinemia (XLA) is an X-linked genetic defect in maturation of B lymphocytes that results in the absence of B lymphocytes...
Allergy and Immunology
Allergy and Immunology
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 2, pp. AB84 - AB84
Rationale To investigate patient treatment satisfaction (TS) and health-related quality of life (HRQoL) in Caucasian and Japanese patients with primary...
Allergy and Immunology | Medicine, Experimental | Medical research | Patient satisfaction | Developmental biology | Analysis | College graduates | Studies | Patients | Quality of life
Allergy and Immunology | Medicine, Experimental | Medical research | Patient satisfaction | Developmental biology | Analysis | College graduates | Studies | Patients | Quality of life
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in...
Allergy and Immunology | 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 | 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 delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | 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 | 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
Allergy and Immunology | 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 | 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 delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | 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 | 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
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Background Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized...
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | APOPTOSIS | CELLS | LOSS-OF-FUNCTION | HUMANS | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ALLERGY | DISEASE | CTLA4 | INFECTION | NF-KAPPA-B | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Data bases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | APOPTOSIS | CELLS | LOSS-OF-FUNCTION | HUMANS | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ALLERGY | DISEASE | CTLA4 | INFECTION | NF-KAPPA-B | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Data bases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1672 - 1680.e10
Background Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess...
Allergy and Immunology | primary immunodeficiency disease | phosphatase and tensin homolog | Activated phosphatidylinositol 3-kinase δ syndrome | catalytic subunit p110δ of phosphatidylinositol 3-kinase | Activated phosphatidylinositol 3-kinase delta syndrome | EXCISION CIRCLES | QUANTIFICATION | IMMUNOLOGY | IDENTIFICATION | COWDENS-SYNDROME | CXC CHEMOKINE RECEPTOR-5 | GUTHRIE CARDS | GENE | ALLERGY | GERMLINE MUTATIONS | TUMOR-SUPPRESSOR | T-CELLS | catalytic subunit p110 delta of phosphatidylinositol 3-kinase | PTEN Phosphohydrolase - genetics | Phosphorylation | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Child, Preschool | Male | Signal Transduction - genetics | Mutation - genetics | Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Tensins - metabolism | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child
Allergy and Immunology | primary immunodeficiency disease | phosphatase and tensin homolog | Activated phosphatidylinositol 3-kinase δ syndrome | catalytic subunit p110δ of phosphatidylinositol 3-kinase | Activated phosphatidylinositol 3-kinase delta syndrome | EXCISION CIRCLES | QUANTIFICATION | IMMUNOLOGY | IDENTIFICATION | COWDENS-SYNDROME | CXC CHEMOKINE RECEPTOR-5 | GUTHRIE CARDS | GENE | ALLERGY | GERMLINE MUTATIONS | TUMOR-SUPPRESSOR | T-CELLS | catalytic subunit p110 delta of phosphatidylinositol 3-kinase | PTEN Phosphohydrolase - genetics | Phosphorylation | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Child, Preschool | Male | Signal Transduction - genetics | Mutation - genetics | Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Tensins - metabolism | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child
Journal Article
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Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 223 - 231
Background Ikaros, which is encoded by IKZF1 , is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to...
Allergy and Immunology | Acute lymphoblastic leukemia | Ikaros | common lymphoid progenitor | dysgammaglobulinemia | nuclear localization | B-cell deficiency | IKZF1 | autoimmune disease | germline mutation | DNA binding | SYSTEM | ZINC FINGERS | ACTIVATION | DEFECTS | STAGE | B-CELL DIFFERENTIATION | IMMUNOLOGY | ALLERGY | LEUKEMOGENESIS | LYMPHOBLASTIC-LEUKEMIA | Autoimmunity | Humans | Autoimmune Diseases - immunology | Hematopoiesis - genetics | Male | Hematologic Diseases - immunology | Autoimmune Diseases - genetics | Ikaros Transcription Factor - genetics | Young Adult | B-Lymphocytes - immunology | Ikaros Transcription Factor - immunology | Adolescent | Germ-Line Mutation | Hematologic Diseases - genetics | Lymphocyte Count | Adult | Female | T-Lymphocytes - immunology | Child | Medical colleges | Developmental biology | Analysis | Leukemia | Immunodeficiency | Genetic aspects | Pediatrics | Flow cytometry | Lymphopoiesis | Transcription factors | Ikaros protein | Pathogenesis | Genomes | Kinases | Immunoglobulin A | Vasculitis | Systemic lupus erythematosus | Hematopoiesis | Cell cycle | Bone marrow | Localization | Age | Deoxyribonucleic acid--DNA | Binding | Nucleotide sequence | Abnormalities | Patients | Hemopoiesis | Diseases | Thrombocytopenic purpura | Chronic conditions | Lymphocytes B | Plasmids | Purpura | Pancytopenia | Stem cells | Mutation | Autoimmune diseases
Allergy and Immunology | Acute lymphoblastic leukemia | Ikaros | common lymphoid progenitor | dysgammaglobulinemia | nuclear localization | B-cell deficiency | IKZF1 | autoimmune disease | germline mutation | DNA binding | SYSTEM | ZINC FINGERS | ACTIVATION | DEFECTS | STAGE | B-CELL DIFFERENTIATION | IMMUNOLOGY | ALLERGY | LEUKEMOGENESIS | LYMPHOBLASTIC-LEUKEMIA | Autoimmunity | Humans | Autoimmune Diseases - immunology | Hematopoiesis - genetics | Male | Hematologic Diseases - immunology | Autoimmune Diseases - genetics | Ikaros Transcription Factor - genetics | Young Adult | B-Lymphocytes - immunology | Ikaros Transcription Factor - immunology | Adolescent | Germ-Line Mutation | Hematologic Diseases - genetics | Lymphocyte Count | Adult | Female | T-Lymphocytes - immunology | Child | Medical colleges | Developmental biology | Analysis | Leukemia | Immunodeficiency | Genetic aspects | Pediatrics | Flow cytometry | Lymphopoiesis | Transcription factors | Ikaros protein | Pathogenesis | Genomes | Kinases | Immunoglobulin A | Vasculitis | Systemic lupus erythematosus | Hematopoiesis | Cell cycle | Bone marrow | Localization | Age | Deoxyribonucleic acid--DNA | Binding | Nucleotide sequence | Abnormalities | Patients | Hemopoiesis | Diseases | Thrombocytopenic purpura | Chronic conditions | Lymphocytes B | Plasmids | Purpura | Pancytopenia | Stem cells | Mutation | Autoimmune diseases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Allergy and Immunology | Immunoglobulin M/genetics | Class I Phosphatidylinositol 3-Kinases/genetics | Gene Expression | Genetic Predisposition to Disease | Immunoglobulin G/genetics | Humans | Male | Immunoglobulin A/genetics | Immunologic Deficiency Syndromes/complications | Adolescent | Adult | Female | Heterozygote | Lymphoma, B-Cell/complications | Mutation | Immunoglobulin Class Switching | IMMUNOLOGY | ALLERGY | DEFICIENCY | MAST-CELLS | PURIFICATION | Lymphoma, B-Cell - complications | Immunologic Deficiency Syndromes - pathology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunoglobulin A - genetics | Class I Phosphatidylinositol 3-Kinases - immunology | Lymphoma, B-Cell - genetics | Immunoglobulin M - immunology | Immunoglobulin G - immunology | Lymphoma, B-Cell - immunology | Immunologic Deficiency Syndromes - immunology | Immunoglobulin M - genetics | Immunologic Deficiency Syndromes - complications | Immunoglobulin G - genetics | Immunoglobulin A - immunology | Lymphoma, B-Cell - pathology | Immunologic Deficiency Syndromes - genetics | primary immunodeficiency | Pi3Kinase delta chain | autosomal dominant | B-cell lymphoma
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 1018 - 1024
Background The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic...
Allergy and Immunology | hyper-IgM syndrome | Cryptosporidium parvum | Cryptococcus neoformans | CD40 ligand | hematopoietic stem cell transplantation | primary immunodeficiency | Pneumocystis jirovecii | combined immunodeficiency | class-switch recombination | DENDRITIC CELLS | IMMUNOLOGY | GENE | ALLERGY | X-LINKED IMMUNODEFICIENCY | EXPERIENCE | MUTATIONS | EXPRESSION | Humans | Japan | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Mutation - genetics | Hyper-IgM Immunodeficiency Syndrome, Type 1 - mortality | Young Adult | CD40 Ligand - genetics | Adolescent | Survival Analysis | Adult | Female | Retrospective Studies | Hyper-IgM Immunodeficiency Syndrome, Type 1 - surgery | Child | Immunoglobulin Class Switching - genetics | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Bone marrow | Bacterial infections | Mutation | Transplants & implants | Mortality
Allergy and Immunology | hyper-IgM syndrome | Cryptosporidium parvum | Cryptococcus neoformans | CD40 ligand | hematopoietic stem cell transplantation | primary immunodeficiency | Pneumocystis jirovecii | combined immunodeficiency | class-switch recombination | DENDRITIC CELLS | IMMUNOLOGY | GENE | ALLERGY | X-LINKED IMMUNODEFICIENCY | EXPERIENCE | MUTATIONS | EXPRESSION | Humans | Japan | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Mutation - genetics | Hyper-IgM Immunodeficiency Syndrome, Type 1 - mortality | Young Adult | CD40 Ligand - genetics | Adolescent | Survival Analysis | Adult | Female | Retrospective Studies | Hyper-IgM Immunodeficiency Syndrome, Type 1 - surgery | Child | Immunoglobulin Class Switching - genetics | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Bone marrow | Bacterial infections | Mutation | Transplants & implants | Mortality
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 1, pp. 223 - 225.e2
Allergy and Immunology | X-LINKED AGAMMAGLOBULINEMIA | GENETIC-ANALYSIS | IMMUNOLOGY | ALLERGY | LYMPHOCYTES | Agammaglobulinemia - blood | Agammaglobulinemia - genetics | Humans | Sensitivity and Specificity | Gene Rearrangement, B-Lymphocyte, Light Chain - genetics | Agammaglobulinemia - diagnosis | Neonatal Screening - methods | Reverse Transcriptase Polymerase Chain Reaction | Early Diagnosis | Infant, Newborn
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2009, Volume 155, Issue 6, pp. 829 - 833
Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency...
Pediatrics | PEDIATRICS | Predictive Value of Tests | Severe Combined Immunodeficiency - diagnosis | Humans | Middle Aged | Child, Preschool | Infant | Male | Neonatal Screening - methods | DNA Repair - genetics | Reverse Transcriptase Polymerase Chain Reaction | Feasibility Studies | Young Adult | Severe Combined Immunodeficiency - genetics | Adolescent | Severe Combined Immunodeficiency - blood | Ribonuclease P - blood | Adult | Female | Receptors, Antigen, T-Cell - genetics | Child | Infant, Newborn | Infants (Newborn) | Allergy | Medical colleges | Severe combined immunodeficiency | Immunodeficiency | Transplantation | T cells | Medical screening | Allergic reaction | Hematopoietic stem cells | Polymerase chain reaction | Bone marrow | Cytogenetics | Children | Health aspects | Medical informatics
Pediatrics | PEDIATRICS | Predictive Value of Tests | Severe Combined Immunodeficiency - diagnosis | Humans | Middle Aged | Child, Preschool | Infant | Male | Neonatal Screening - methods | DNA Repair - genetics | Reverse Transcriptase Polymerase Chain Reaction | Feasibility Studies | Young Adult | Severe Combined Immunodeficiency - genetics | Adolescent | Severe Combined Immunodeficiency - blood | Ribonuclease P - blood | Adult | Female | Receptors, Antigen, T-Cell - genetics | Child | Infant, Newborn | Infants (Newborn) | Allergy | Medical colleges | Severe combined immunodeficiency | Immunodeficiency | Transplantation | T cells | Medical screening | Allergic reaction | Hematopoietic stem cells | Polymerase chain reaction | Bone marrow | Cytogenetics | Children | Health aspects | Medical informatics
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 5, pp. 1471 - 1473.e4
[...]the survival after thymic transplantation is excellent, and patients develop host-derived naive T cells with normal TCRs and mitogen responses.4...
Allergy and Immunology | SAMPLE | POPULATION | SEVERE COMBINED IMMUNODEFICIENCY | ALLERGY | IGE | EXACERBATIONS | VALIDATION | ASTHMA | IMMUNOLOGY | CHILDREN | T cells | Medical colleges | Heart failure | Cytomegalovirus | Immunization | T cell receptors | Medical screening | Patients | Defects | Whooping cough | Genotype & phenotype | Lymphocytes | Bone marrow | Mutation | Age | Deoxyribonucleic acid--DNA
Allergy and Immunology | SAMPLE | POPULATION | SEVERE COMBINED IMMUNODEFICIENCY | ALLERGY | IGE | EXACERBATIONS | VALIDATION | ASTHMA | IMMUNOLOGY | CHILDREN | T cells | Medical colleges | Heart failure | Cytomegalovirus | Immunization | T cell receptors | Medical screening | Patients | Defects | Whooping cough | Genotype & phenotype | Lymphocytes | Bone marrow | Mutation | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 131, Issue 5, pp. 1437 - 1440.e5
Allergy and Immunology | IMMUNE-DEFICIENCY | IMMUNOLOGY | B-CELL | ALLERGY | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - classification | Genes, Immunoglobulin Light Chain | Humans | Middle Aged | Child, Preschool | Common Variable Immunodeficiency - genetics | Male | Young Adult | Immunoglobulin kappa-Chains - genetics | Adolescent | Adult | Receptors, Antigen, T-Cell - genetics | Genes, T-Cell Receptor | Recombination, Genetic - immunology | Child
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 2, pp. 411 - 419.e1
Background The molecular mechanism of class-switch recombination (CSR) in human subjects has not been fully elucidated. The CSR-induced mutations occurring in...
Allergy and Immunology | Activation-induced cytidine deaminase | immunoglobulin switch region | uracil-DNA glycosylase | somatic hypermutation | antibody maturation | class-switch recombination | RECOMBINATION | CYTIDINE DEAMINASE AID | ACTIVATION | IMMUNOLOGY | URACIL | MLH1 | DEFICIENCY | REPAIR | ALLERGY | MUTATIONS | DNA-POLYMERASE-ETA | IMMUNODEFICIENCY | Cytidine Deaminase - immunology | Somatic Hypermutation, Immunoglobulin | CD40 Ligand - deficiency | Cytidine Deaminase - genetics | Humans | Gene Expression Regulation | Molecular Sequence Data | Infant | Male | Immunoglobulin M - immunology | CD40 Ligand - immunology | Amino Acid Motifs | B-Lymphocytes - immunology | Uracil-DNA Glycosidase - immunology | CD40 Ligand - genetics | Cytidine Deaminase - deficiency | Adult | Immunologic Memory | 5' Flanking Region | Child | Immunoglobulin Class Switching | Uracil-DNA Glycosidase - genetics | Immunoglobulin M - genetics | Uracil-DNA Glycosidase - deficiency | Analysis | B cells | Bacterial infections | Cloning | Mutation | Gene expression | Age | Deoxyribonucleic acid--DNA | Defects
Allergy and Immunology | Activation-induced cytidine deaminase | immunoglobulin switch region | uracil-DNA glycosylase | somatic hypermutation | antibody maturation | class-switch recombination | RECOMBINATION | CYTIDINE DEAMINASE AID | ACTIVATION | IMMUNOLOGY | URACIL | MLH1 | DEFICIENCY | REPAIR | ALLERGY | MUTATIONS | DNA-POLYMERASE-ETA | IMMUNODEFICIENCY | Cytidine Deaminase - immunology | Somatic Hypermutation, Immunoglobulin | CD40 Ligand - deficiency | Cytidine Deaminase - genetics | Humans | Gene Expression Regulation | Molecular Sequence Data | Infant | Male | Immunoglobulin M - immunology | CD40 Ligand - immunology | Amino Acid Motifs | B-Lymphocytes - immunology | Uracil-DNA Glycosidase - immunology | CD40 Ligand - genetics | Cytidine Deaminase - deficiency | Adult | Immunologic Memory | 5' Flanking Region | Child | Immunoglobulin Class Switching | Uracil-DNA Glycosidase - genetics | Immunoglobulin M - genetics | Uracil-DNA Glycosidase - deficiency | Analysis | B cells | Bacterial infections | Cloning | Mutation | Gene expression | Age | Deoxyribonucleic acid--DNA | Defects
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2009, Volume 155, Issue 3, pp. 435 - 438
We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation....
Pediatrics | PEDIATRICS | COMPLEX | REPAIR | NIJMEGEN BREAKAGE SYNDROME | DNA-DAMAGE | Lung Neoplasms - drug therapy | Humans | Lung Neoplasms - radiotherapy | Male | Antineoplastic Agents - therapeutic use | MRE11 Homologue Protein | Taxoids - therapeutic use | Carboplatin - therapeutic use | Autopsy | Fatal Outcome | Adenocarcinoma - genetics | Drug Therapy, Combination | Child | Adenocarcinoma - radiotherapy | Siblings | Ataxia Telangiectasia - diagnosis | Lung Neoplasms - genetics | CA-125 Antigen - blood | Docetaxel | Combined Modality Therapy | DNA-Binding Proteins - genetics | Adenocarcinoma - drug therapy | Adenocarcinoma - diagnosis | Adolescent | Ataxia Telangiectasia - genetics | Mutation | Lung Neoplasms - diagnosis
Pediatrics | PEDIATRICS | COMPLEX | REPAIR | NIJMEGEN BREAKAGE SYNDROME | DNA-DAMAGE | Lung Neoplasms - drug therapy | Humans | Lung Neoplasms - radiotherapy | Male | Antineoplastic Agents - therapeutic use | MRE11 Homologue Protein | Taxoids - therapeutic use | Carboplatin - therapeutic use | Autopsy | Fatal Outcome | Adenocarcinoma - genetics | Drug Therapy, Combination | Child | Adenocarcinoma - radiotherapy | Siblings | Ataxia Telangiectasia - diagnosis | Lung Neoplasms - genetics | CA-125 Antigen - blood | Docetaxel | Combined Modality Therapy | DNA-Binding Proteins - genetics | Adenocarcinoma - drug therapy | Adenocarcinoma - diagnosis | Adolescent | Ataxia Telangiectasia - genetics | Mutation | Lung Neoplasms - diagnosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency...
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
Journal Article