title: Advances in basic and clinical immunology in 2014.
abstract: Genetic identification of immunodeficiency syndromes has become more efficient with the availability of whole-exome sequencing, expediting the identification of relevant genes and complementing traditional linkage analysis and homozygosity mapping. New genes defects causing immunodeficiency include phophoglucomutase 3 (PGM3), cytidine 5' triphosphate synthase 1 (CTPS1), nuclear factor κB-inducing kinase (NIK), cytotoxic T lymphocyte-associated antigen 4 (CTLA4), B-cell chronic lymphocytic leukemia/lymphoma 10 (BCL10), phosphoinositide-3 kinase regulatory subunit 1 (PIK3R1), IL21, and Jagunal homolog 1 (JAGN1). New case reports expanded the clinical spectrum of gene defects. For example, a specific recombination-activating gene 1 variant protein with partial recombinant activity might produce Omenn syndrome or a common variable immunodeficiency phenotype. Central and peripheral B-cell tolerance was investigated in patients with several primary immunodeficiencies, including common variable immunodeficiency and Wiskott-Aldrich syndrome, to explain the occurrence of autoimmunity and inflammatory disorders. The role of IL-12 and IL-15 in the enhancement of natural killer cell activity was reported. Newborn screening for T-cell deficiency is being implemented in more states and is achieving its goal of defining the true incidence of severe combined immunodeficiency and providing early treatment that offers the highest survival for these patients. Definitive treatment of severe immunodeficiency with both hematopoietic stem cell transplantation and gene therapy was reported to be successful, with increasing definition of conditions needed for optimal outcomes. Progress in HIV infection is directed toward the development of an effective vaccine and the eradication of hidden latent virus reservoirs.
authors.affiliation: Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex.
authors.forename: Javier
authors.initials: J
authors.lastname: Chinen
authors.affiliation: Division of Immunology, Boston Children's Hospital, and the Departments of Pediatrics and Pathology, Harvard Medical School, Boston, Mass.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex. Electronic address: wtsheare@texaschildrenshospital.org.
authors.forename: William T
authors.initials: WT
authors.lastname: Shearer
mesh_terms: D000486:Allergy and Immunology / Q000266:history; D019468:Disease Management; D015658:HIV Infections / Q000276:immunology; D049674:History, 21st Century; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D015997:Neonatal Screening; D009894:Opportunistic Infections / Q000209:etiology
keywords: HIV1; Immunology; common variable immunodeficiency; dedicator of cytokinesis 8; intravenous immunoglobulin; newborn screening; primary immunodeficiency; recombination-activating gene 1; severe combined immunodeficiency