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Current Allergy and Asthma Reports, ISSN 1529-7322, 3/2019, Volume 19, Issue 3, pp. 1 - 1
The section heading that reads PI3K100δ Deficiency should be corrected to read PI3K110δ Deficiency. 
Allergology | Medicine & Public Health | Medical colleges | Killer cells | Immunodeficiency
Journal Article
IUBMB Life, ISSN 1521-6543, 04/2012, Volume 64, Issue 4, pp. 346 - 353
Journal Article
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 4, pp. 591 - 599
Journal Article
Scientia et Technica, ISSN 0122-1701, 2006, Volume 1, Issue 30, pp. 345 - 348
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, p. 605
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.jaci.2017.11.042... 
Virus diseases | Killer cells | Analysis | Immunodeficiency | Genetic research | Genetic aspects
Journal Article
The Journal of allergy and clinical immunology, ISSN 0091-6749, 8/2018, Volume 142, Issue 2, pp. 605 - 617.e7
Gain-of-function mutations in PI3K110δ lead to impaired NK cell cytolytic function that can be partially restored with rapamycin treatment. 
APDS | PI3K signaling | NK cell deficiency | cytotoxicity | combined immunodeficiency
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, pp. 605 - 617.e7
Heterozygous gain-of-function mutations in PI3K110δ lead to lymphadenopathy, lymphoid hyperplasia, EBV and cytomegalovirus viremia, and sinopulmonary... 
activated phosphoinositide 3-kinase δ syndrome | Natural killer cell deficiency | cytotoxicity | combined immunodeficiency | phosphoinositide 3-kinase signaling | F-ACTIN | SIGNALING PATHWAYS | 3-KINASE DELTA SYNDROME | NK-CELLS | MENDELIAN DISORDERS | IMMUNOLOGY | ALDRICH-SYNDROME PROTEIN | ACTIN ACCUMULATION | LYTIC GRANULE CONVERGENCE | ALLERGY | IMMUNOLOGICAL SYNAPSE | activated phosphoinositide 3-kinase delta syndrome | PRIMARY IMMUNODEFICIENCY | Sirolimus - therapeutic use | Lymphocyte Activation | Viremia | Herpesvirus 4, Human - physiology | Humans | Cells, Cultured | Immunophenotyping | Cytomegalovirus Infections - genetics | Mutation - genetics | Immunological Synapses - metabolism | Killer Cells, Natural - physiology | Whole Exome Sequencing | Phosphatidylinositol 3-Kinases - genetics | Microscopy, Confocal | Epstein-Barr Virus Infections - genetics | Immunologic Deficiency Syndromes - genetics | Heterozygote | Cell Differentiation | Immunologic Deficiency Syndromes - drug therapy | Cytomegalovirus - physiology | Cytotoxicity, Immunologic - drug effects | Flow cytometry | Phenotypes | Disease | Identification methods | Toxicity | Hyperplasia | Polymerization | Cytotoxicity | Confocal microscopy | Rapamycin | Functional analysis | Kinases | Patients | Lymphadenopathy | Cell activation | Microscopy | Phenotyping | Mutation | Natural killer cells | Viral infections
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 06/2018, Volume 141, Issue 6, pp. 2142 - 2155.e5
Natural killer (NK) cells are critical innate effector cells whose development is dependent on the Janus kinase–signal transducer and activator of... 
natural killer cell deficiency | perforin | ruxolitinib | Janus kinase inhibition | Signal transducer and activator of transcription 1, gain of function | natural killer cell maturation | IMMUNITY | ACQUISITION | Signal transducer and activator of transcription 1 | PERFORIN GENE | IL-15 | IMMUNOLOGY | SUBSET | RESPONSES | NK CELLS | ALLERGY | gain of function | CD56(BRIGHT) | RECEPTORS | EXPRESSION | Humans | Child, Preschool | Male | STAT1 Transcription Factor - genetics | Janus Kinases - antagonists & inhibitors | Adolescent | Immunologic Deficiency Syndromes - genetics | Killer Cells, Natural - immunology | Adult | Female | Immunologic Deficiency Syndromes - drug therapy | Killer Cells, Natural - drug effects | Gain of Function Mutation | Immunologic Deficiency Syndromes - immunology | Child | Pyrazoles - pharmacology | Virus diseases | Fc receptors | Medical research | Care and treatment | Killer cells | Medicine, Experimental | Genetic aspects | Genetic transcription | CD57 antigen | Phosphorylation | Transcription | Effector cells | Cytotoxicity | Kinases | Interleukin 2 | Peripheral blood | Janus kinase | Natural killer cells | Perforin | Stat1 protein | Genetic modification | CRISPR | Phenotypes | Bacterial infections | Maturation | T cell receptors | Stat5 protein | Patients | Molecular chains | Signaling | CD16 antigen | Cell lines | Mutation | Viral infections
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 10/2018, Volume 38, Issue 7, pp. 753 - 756
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-018-0554-3 
Hematopoietic stem cell transplant | STAT1 gain of function | Common variable immunodeficiency | Chronic mucocutaneous candidiasis | Combined immunodeficiency | UNDERLIE | IMMUNOLOGY | Mycoses | Medical colleges | Genetic aspects | Transplantation | Diagnosis | Hematopoietic stem cells | Stat1 protein | Immunodeficiency
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2017, Volume 12, Issue 8, pp. e0181134 - e0181134
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 2, pp. AB217 - AB217
  Immune evaluation demonstrated absent IgA, normal IgG and IgM, poor specific antibody responses after vaccination, mild CD4+ T cell lymphopenia with an... 
Allergy and Immunology | Viral antibodies | Mycoses | Antibodies | Health aspects | Flow cytometry | Growth hormones | Mutation | Fungal infections
Journal Article
Clinical Immunology, ISSN 1521-6616, 2015, Volume 166-167, pp. 19 - 26
Abstract Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by B cell dysfunction and decreased serum immunoglobulin. CVID... 
Allergy and Immunology | T helper cells | Activation | Common variable immunodeficiency | Memory B cells | Co-stimulation | Cytokine | ABNORMALITIES | RECEPTOR | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | HYPOGAMMAGLOBULINEMIA | DISEASE | MUTATIONS | ICOS | EXPRESSION | LYMPHOCYTES | Common Variable Immunodeficiency - immunology | Cell Proliferation | Humans | Middle Aged | Interleukin-17 - immunology | Interleukin-13 - immunology | Male | Interleukin-13 - genetics | Inducible T-Cell Co-Stimulator Protein - genetics | Adult | Female | B-Lymphocytes - pathology | T-Lymphocytes - pathology | B-Cell Activation Factor Receptor - genetics | Inducible T-Cell Co-Stimulator Protein - immunology | B-Cell Activation Factor Receptor - immunology | Severity of Illness Index | Cross-Sectional Studies | Signal Transduction | Lymphocyte Activation | Common Variable Immunodeficiency - pathology | Gene Expression Regulation | Interleukin-17 - genetics | CTLA-4 Antigen - genetics | Common Variable Immunodeficiency - genetics | CTLA-4 Antigen - immunology | B7-H1 Antigen - genetics | B7-H1 Antigen - immunology | B-Lymphocytes - immunology | Interleukin-9 - genetics | Interleukin-10 - genetics | Lymphocyte Count | Immunologic Memory | T-Lymphocytes - immunology | Aged | Primary Cell Culture | Programmed Cell Death 1 Receptor - immunology | Interleukin-10 - immunology | Interleukin-9 - immunology | Programmed Cell Death 1 Receptor - genetics | Index Medicus
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2/2014, Volume 34, Issue 2, pp. 146 - 156
Journal Article
06/2014
Disclosed are molecular and/or immunological diagnostic methods for identifying the Hyper IgM Syndrome linked to the X chromosome in a human being, where said... 
TESTING | METALLURGY | PEPTIDES | ORGANIC CHEMISTRY | INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES | CHEMISTRY | MEASURING | PHYSICS
Patent
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 04/2019, Volume 7, p. 160
In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the... 
STAT1 | gain-of-function | UNDERLIE | primary immunodeficiency | PEDIATRICS | human immunology | Hodgkin lymphoma | Lymphadenopathy | Lymphomas | Genetic aspects
Journal Article