Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
We report the updated classification of primary immunodeficiencies 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 a...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2014-04-01
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| Series: | Frontiers in Immunology |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00162/full |
| _version_ | 1811306387289931776 |
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| author | Waleed eAl-Herz Waleed eAl-Herz Aziz eBousfiha Jean-Laurent eCasanova Jean-Laurent eCasanova Talal eChatila Talal eChatila Mary Ellen eConley Charlotte eCunningham-Rundles Amos eEtzioni Jose Luis Franco Hubert Bobby Gaspar Steven eHolland Christoph eKlein Shigeaki eNonoyama Hans eOchs Eric eOksenhendler Capucine ePicard Capucine ePicard Jennifer ePuck Kathleen eSullivan Mimi eTang Mimi eTang |
| author_facet | Waleed eAl-Herz Waleed eAl-Herz Aziz eBousfiha Jean-Laurent eCasanova Jean-Laurent eCasanova Talal eChatila Talal eChatila Mary Ellen eConley Charlotte eCunningham-Rundles Amos eEtzioni Jose Luis Franco Hubert Bobby Gaspar Steven eHolland Christoph eKlein Shigeaki eNonoyama Hans eOchs Eric eOksenhendler Capucine ePicard Capucine ePicard Jennifer ePuck Kathleen eSullivan Mimi eTang Mimi eTang |
| author_sort | Waleed eAl-Herz |
| collection | DOAJ |
| description | We report the updated classification of primary immunodeficiencies 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 primary immunodeficiencies. For each disorder, the key clinical and laboratory features are provided. This classification is the most up to date catalogue of all known primary immunodeficiencies 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. |
| first_indexed | 2024-04-13T08:44:24Z |
| format | Article |
| id | doaj.art-9d2ea0303d5a402ebca3134c83051a8f |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-13T08:44:24Z |
| publishDate | 2014-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-9d2ea0303d5a402ebca3134c83051a8f2022-12-22T02:53:47ZengFrontiers Media S.A.Frontiers in Immunology1664-32242014-04-01510.3389/fimmu.2014.0016278108Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary ImmunodeficiencyWaleed eAl-Herz0Waleed eAl-Herz1Aziz eBousfiha2Jean-Laurent eCasanova3Jean-Laurent eCasanova4Talal eChatila5Talal eChatila6Mary Ellen eConley7Charlotte eCunningham-Rundles8Amos eEtzioni9Jose Luis Franco10Hubert Bobby Gaspar11Steven eHolland12Christoph eKlein13Shigeaki eNonoyama14Hans eOchs15Eric eOksenhendler16Capucine ePicard17Capucine ePicard18Jennifer ePuck19Kathleen eSullivan20Mimi eTang21Mimi eTang22Kuwait UniversityAl-Sabah HospitalCasablanca Children Hospital Ibn Rochd Medical School, King Hassan II UniversityRockefeller Branch,The Rockefeller UniversityUniversité Paris DescartesHarvard Medical School, Harvard UniversityThe Boston Children's HospitalRockefeller Branch,The Rockefeller UniversityMount Sinai School of MedicineThe Rappaport School of Medicne, TechnionUniversity of AntioquiaUniversity College LondonNational Institutes of Allergy and Infectious Diseases, National Institutes of HealthUniversity Children's Hospital Dr. von Haunersches KinderspitalNational Defense Medical CollegeSeattle Children's Research Institute, University of WashingtonCHU Paris-GH St-Louis Lariboisière F.WidalUniversité Paris DescartesHopital Necker-Enfants MaladesUniversity of California San Francisco and UCSF Benioff Children’s HospitalUniversity of PennsylvaniaUniversity of Melbourne, Royal Children’s Hospital MelbourneUniversity of MelbourneWe report the updated classification of primary immunodeficiencies 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 primary immunodeficiencies. For each disorder, the key clinical and laboratory features are provided. This classification is the most up to date catalogue of all known primary immunodeficiencies 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.http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00162/fullClassificationGenotypeIUISgenetic defectsPrimary Immunodeficiencies |
| spellingShingle | Waleed eAl-Herz Waleed eAl-Herz Aziz eBousfiha Jean-Laurent eCasanova Jean-Laurent eCasanova Talal eChatila Talal eChatila Mary Ellen eConley Charlotte eCunningham-Rundles Amos eEtzioni Jose Luis Franco Hubert Bobby Gaspar Steven eHolland Christoph eKlein Shigeaki eNonoyama Hans eOchs Eric eOksenhendler Capucine ePicard Capucine ePicard Jennifer ePuck Kathleen eSullivan Mimi eTang Mimi eTang Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency Frontiers in Immunology Classification Genotype IUIS genetic defects Primary Immunodeficiencies |
| title | Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency |
| title_full | Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency |
| title_fullStr | Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency |
| title_full_unstemmed | Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency |
| title_short | Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency |
| title_sort | primary immunodeficiency diseases an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency |
| topic | Classification Genotype IUIS genetic defects Primary Immunodeficiencies |
| url | http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00162/full |
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