title: Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
abstract: We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
authors.affiliation: Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.
authors.forename: Waleed
authors.initials: W
authors.lastname: Al-Herz
authors.affiliation: Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University , Casablanca , Morocco.
authors.forename: Aziz
authors.initials: A
authors.lastname: Bousfiha
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA ; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Division of Immunology, Children's Hospital Boston , Boston, MA , USA.
authors.forename: Talal
authors.initials: T
authors.lastname: Chatila
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA.
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.affiliation: Department of Medicine and Pediatrics, Mount Sinai School of Medicine , New York, NY , USA.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Cunningham-Rundles
authors.affiliation: Meyer Children's Hospital-Technion , Haifa , Israel.
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.affiliation: Group of Primary Immunodeficiencies, University of Antioquia , Medellin , Colombia.
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Franco
authors.affiliation: UCL Institute of Child Health , London , UK.
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases , Bethesda, MD , USA.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich , Munich , Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.affiliation: Department of Pediatrics, National Defense Medical College , Saitama , Japan.
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.affiliation: Department of Pediatrics, Seattle Children's Research Institute, University of Washington , Seattle, WA , USA.
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.affiliation: Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris , Paris , France ; Sorbonne Paris Cité, Université Paris Diderot , Paris , France.
authors.forename: Erik
authors.initials: E
authors.lastname: Oksenhendler
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France ; Centre d'Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP , Paris , France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.affiliation: Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco , San Francisco, CA , USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.affiliation: Department of Pediatrics, Division of Allergy Immunology, The Children's Hospital of Philadelphia , Philadelphia, PA , USA.
authors.forename: Kate
authors.initials: K
authors.lastname: Sullivan
authors.affiliation: Murdoch Childrens Research Institute , Melbourne, VIC , Australia ; Department of Paediatrics, University of Melbourne , Melbourne, VIC , Australia ; Department of Allergy and Immunology, Royal Children's Hospital , Melbourne, VIC , Australia.
authors.forename: Mimi L K
authors.initials: ML
authors.lastname: Tang
keywords: IUIS; classification; genetic defects; genotype; primary immunodeficiencies