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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1144 - 1152.e11
Background Signals emanating from the antigen T-cell receptor (TCR) are required for T-cell development and function. The T lymphocyte–specific protein... 
Allergy and Immunology | LCK, SRC tyrosine kinase | recurrent infections | CD4 | T-cell receptor signaling | autoinflammation | immunodeficiency | genetic defect | lymphopenia | ACTIVATION | COMPLEX | SRC tyrosine kinase | PROTEIN-TYROSINE KINASES | P56(LCK) | IMMUNOLOGY | MICE LACKING | SIGNAL-TRANSDUCTION | ALLERGY | LCK | MUTATION | DOCK8 DEFICIENCY | FYN | ANTIGEN RECEPTOR | Genetic Predisposition to Disease | T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis | Receptors, Antigen, T-Cell - metabolism | Genes, Recessive - genetics | Humans | Cells, Cultured | Child, Preschool | T-Lymphocytopenia, Idiopathic CD4-Positive - genetics | Mutation, Missense - genetics | Polymorphism, Genetic | CD4-Positive T-Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Immunologic Deficiency Syndromes - genetics | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - chemistry | Female | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Calcium Signaling - genetics | France | Immunologic Deficiency Syndromes - diagnosis | Tyrosine | Antigens | T cells | Genes | Immunodeficiency | T cell receptors | Infections | Kinases | Viral infections | Immune system | Autoimmunity | Calcium mobilization | Phosphorylation | CD8 antigen | Recurrent infection | Inflammation | Lymphocytes T | Risk factors | CD4 antigen | Calcium signalling | T-cell receptor | Missense mutation | Lymphopenia | Lck protein | Respiratory tract diseases | Differentiation | Protein-tyrosine kinase | Age | uniparental disomy | Life Sciences | Biochemistry, Molecular Biology
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2010, Volume 63, Issue 4, pp. 607 - 641
Background Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically... 
Dermatology | mendelian disorders of cornification | genetics | histology | superficial epidermolytic ichthyosis | keratinopathic ichthyosis | epidermolytic ichthyosis | ultrastructure | autosomal recessive congenital ichthyosis | EPIDERMAL PERMEABILITY BARRIER | CONGENITAL ICHTHYOSIS | HEALING COLLODION BABY | OF-FUNCTION MUTATIONS | EPIDERMOLYTIC HYPERKERATOSIS | LAMELLAR ICHTHYOSIS | DERMATOLOGY | LIPID STORAGE DISEASE | BATHING-SUIT ICHTHYOSIS | NETHERTON-SYNDROME | PRENATAL-DIAGNOSIS | Severity of Illness Index | Congresses as Topic | Genetic Predisposition to Disease | Prognosis | Practice Guidelines as Topic - standards | Humans | Gene Expression Regulation | Terminology as Topic | Infant | Male | Dermatologic Agents - therapeutic use | Ichthyosiform Erythroderma, Congenital - classification | Young Adult | Ichthyosis - classification | Adolescent | Adult | Female | France | Child | Infant, Newborn | Ichthyosiform Erythroderma, Congenital - drug therapy | Ichthyosiform Erythroderma, Congenital - genetics | Genetics | Genetic disorders | Developmental biology | Hospices (Terminal care) | Ichthyosis | autosomal recessive congenital ichthyosis; epidermolytic ichthyosis; genetics; histology; keratinopathic ichthyosis; mendelian disorders of cornification; superficial epidermolytic ichthyosis; ultrastructure | Medical and Health Sciences | Dermatology and Venereal Diseases | Medicin och hälsovetenskap | Dermatologi och venereologi | Klinisk medicin | MEDICINE | Dermatology and venerology,clinical genetics, internal medicine | Clinical Medicine | MEDICIN | Dermatologi och venerologi | Dermatologi och venerologi, klinisk genetik, invärtesmedicin | Dermatology and venerology
Journal Article
by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
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 | 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 | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Young Adult | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Adult | Female | Surveys and Questionnaires | Herpesviridae Infections - genetics | Child | Immunologic Deficiency Syndromes - therapy | Hematopoietic Stem Cell Transplantation | International Cooperation | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Animals | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Survival Analysis | Immunologic Deficiency Syndromes - genetics | Mice | Cohort Studies | 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 138, Issue 1, pp. 210 - 218.e9
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 5, pp. 1131 - 1141.e9
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1681 - 1689.e8
Journal Article