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Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 6, pp. 809 - 821
Journal Article
Blood, ISSN 0006-4971, 2013, Volume 121, Issue 16, pp. 3112 - 3116
Journal Article
Science, ISSN 0036-8075, 11/2013, Volume 342, Issue 6160, pp. 866 - 871
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | ACTIVATED CALCIUM-CHANNELS | IMMUNE-DEFICIENCY | IMMUNOLOGY | T-CELL IMMUNODEFICIENCY | MICE LACKING | SKELETAL-MUSCLE | INFLUX | ALLERGY | Ca2 | store-operated Ca2+ entry | MUTATION | PORE SUBUNIT | CRAC CHANNEL | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2014, Volume 124, Issue 12, pp. 5239 - 5248
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2015, Volume 212, Issue 6, pp. 939 - 951
Journal Article
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 5, pp. 753 - 761
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive... 
B-CELLS | EFFECTOR | TPPII | COMPLEX | PHENOTYPE | SUBSETS | SENESCENCE | MUTATIONS | GIANT PROTEASE | HEMATOLOGY | EXHAUSTION | Immunologic Deficiency Syndromes - pathology | Frameshift Mutation | Perforin - genetics | Humans | Aminopeptidases - immunology | Child, Preschool | Male | Anemia, Hemolytic, Autoimmune - genetics | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - deficiency | Thrombocytopenia - complications | Thrombocytopenia - genetics | Aging - immunology | Anemia, Hemolytic, Autoimmune - pathology | T-Lymphocytes - metabolism | Base Sequence | Serine Endopeptidases - genetics | Serine Endopeptidases - immunology | CD8-Positive T-Lymphocytes - metabolism | Perforin - immunology | Immunologic Deficiency Syndromes - immunology | Child | Fibroblasts - metabolism | Gene Expression | Serine Endopeptidases - deficiency | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - immunology | Thrombocytopenia - immunology | Aminopeptidases - deficiency | Fibroblasts - pathology | Thrombocytopenia - pathology | Mice, Knockout | Anemia, Hemolytic, Autoimmune - immunology | Fibroblasts - immunology | T-Lymphocytes - immunology | Consanguinity | Mice | CD8-Positive T-Lymphocytes - immunology | CD8-Positive T-Lymphocytes - pathology | Molecular Sequence Data | T-Box Domain Proteins - immunology | Female | T-Lymphocytes - pathology | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Siblings | Aminopeptidases - genetics | Immunologic Deficiency Syndromes - complications | Anemia, Hemolytic, Autoimmune - complications | T-Box Domain Proteins - genetics | Animals | Immunologic Deficiency Syndromes - genetics | Apoptosis | Plenary Paper | 100
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 4, pp. 959 - 971
Journal Article
Cell, ISSN 0092-8674, 09/2000, Volume 102, Issue 5, pp. 565 - 575
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family.... 
DEFECTIVE EXPRESSION | SIGNAL-TRANSDUCTION | CLASS SWITCH RECOMBINATION | SOMATIC HYPERMUTATION | IMMUNOGLOBULIN GENES | BIOCHEMISTRY & MOLECULAR BIOLOGY | X-LINKED IMMUNODEFICIENCY | CD40 LIGAND | FACTOR-KAPPA-B | GERMINAL-CENTERS | ANTIGEN RECEPTOR | CELL BIOLOGY | Immunologic Deficiency Syndromes - pathology | Lymph Nodes - pathology | Genes, Recessive - genetics | Germinal Center - immunology | Humans | Child, Preschool | Molecular Sequence Data | RNA, Messenger - analysis | Infant | Male | Immunoglobulin M - immunology | Lod Score | Palatine Tonsil - immunology | Hyperplasia - genetics | APOBEC-1 Deaminase | DNA Mutational Analysis | Cell Division | Gene Deletion | Cloning, Molecular | Female | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - immunology | Child | Chromosomes, Human, Pair 12 - genetics | Cytidine Deaminase - chemistry | Immunoglobulin M - genetics | Amino Acid Sequence | Immunologic Deficiency Syndromes - enzymology | B-Lymphocytes - enzymology | Lymphocyte Activation | Cytidine Deaminase - genetics | RNA, Messenger - genetics | Germinal Center - pathology | Lymph Nodes - immunology | Hyperplasia - pathology | Palatine Tonsil - pathology | B-Lymphocytes - immunology | Hyperplasia - physiopathology | Pedigree | Cytidine Deaminase - metabolism | Adolescent | Cytidine Deaminase - deficiency | Immunologic Deficiency Syndromes - genetics | Physiological aspects | Immunoglobulins | B cells | Differentiation | Genetic recombination | Enzyme activation
Journal Article