Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Waleed Al-Herz¹, Aziz Bousfiha², Jean-Laurent Casanova³, Talal Chatila⁴, Mary Ellen Conley⁵, Charlotte Cunningham-Rundles⁶, Amos Etzioni⁷, Jose Luis Franco⁸, H Bobby Gaspar⁹, Steven M Holland¹⁰, Christoph Klein¹¹, Shigeaki Nonoyama¹², Hans D Ochs¹³, Erik Oksenhendler¹⁴, Capucine Picard¹⁵, Jennifer M Puck¹⁶, Kate Sullivan¹⁷, Mimi L K Tang¹⁸

Affiliations

¹ Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.
² Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University , Casablanca , Morocco.
³ 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.
⁴ Division of Immunology, Children's Hospital Boston , Boston, MA , USA.
⁵ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA.
⁶ Department of Medicine and Pediatrics, Mount Sinai School of Medicine , New York, NY , USA.
⁷ Meyer Children's Hospital-Technion , Haifa , Israel.
⁸ Group of Primary Immunodeficiencies, University of Antioquia , Medellin , Colombia.
⁹ UCL Institute of Child Health , London , UK.
¹⁰ Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases , Bethesda, MD , USA.
¹¹ Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich , Munich , Germany.
¹² Department of Pediatrics, National Defense Medical College , Saitama , Japan.
¹³ Department of Pediatrics, Seattle Children's Research Institute, University of Washington , Seattle, WA , USA.
¹⁴ Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris , Paris , France ; Sorbonne Paris Cité, Université Paris Diderot , Paris , France.
¹⁵ 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.
¹⁶ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco , San Francisco, CA , USA.
¹⁷ Department of Pediatrics, Division of Allergy Immunology, The Children's Hospital of Philadelphia , Philadelphia, PA , USA.
¹⁸ 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.

PMID: 24795713
PMCID: PMC4001072
DOI: 10.3389/fimmu.2014.00162

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Waleed Al-Herz et al. Front Immunol. 2014.

. 2014 Apr 22:5:162.

doi: 10.3389/fimmu.2014.00162. eCollection 2014.

Authors

Affiliations

¹ Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.
² Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University , Casablanca , Morocco.
³ 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.
⁴ Division of Immunology, Children's Hospital Boston , Boston, MA , USA.
⁵ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA.
⁶ Department of Medicine and Pediatrics, Mount Sinai School of Medicine , New York, NY , USA.
⁷ Meyer Children's Hospital-Technion , Haifa , Israel.
⁸ Group of Primary Immunodeficiencies, University of Antioquia , Medellin , Colombia.
⁹ UCL Institute of Child Health , London , UK.
¹⁰ Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases , Bethesda, MD , USA.
¹¹ Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich , Munich , Germany.
¹² Department of Pediatrics, National Defense Medical College , Saitama , Japan.
¹³ Department of Pediatrics, Seattle Children's Research Institute, University of Washington , Seattle, WA , USA.
¹⁴ Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris , Paris , France ; Sorbonne Paris Cité, Université Paris Diderot , Paris , France.
¹⁵ 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.
¹⁶ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco , San Francisco, CA , USA.
¹⁷ Department of Pediatrics, Division of Allergy Immunology, The Children's Hospital of Philadelphia , Philadelphia, PA , USA.
¹⁸ 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.

PMID: 24795713
PMCID: PMC4001072
DOI: 10.3389/fimmu.2014.00162

Erratum in

Front Immunol. 2014;5:460

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.

Keywords: IUIS; classification; genetic defects; genotype; primary immunodeficiencies.

PubMed Disclaimer

Grants and funding

LinkOut - more resources

Full Text Sources
Other Literature Sources
- The Lens - Patent Citations Database
- scite Smart Citations
Medical
- ClinicalTrials.gov
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Affiliations

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Authors

Affiliations

Erratum in

Abstract

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical