Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Jean-Laurent Casanova,Helen Chapel,Mary Ellen Conley,Mary Ellen Conley,Charlotte Cunningham-Rundles,Amos Etzioni,Alain Fischer,José Luis Franco,Raif S. Geha,Lennart Hammarström,Shigeaki Nonoyama,Luigi D. Notarangelo,Luigi D. Notarangelo,Hans D. Ochs,Jennifer M. Puck,Chaim M. Roifman,Reinhard Seger,Mimi L.K. Tang,Mimi L.K. Tang +21 more
TLDR
The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies 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.Abstract:
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.read more
Citations
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Journal ArticleDOI
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Desirée Schubert,Desirée Schubert,Claudia Bode,Rupert Kenefeck,Tie Zheng Hou,James B. Wing,Alan Kennedy,Alla Bulashevska,Britt-Sabina Petersen,Alejandro A. Schäffer,Björn Grüning,Susanne Unger,Natalie Frede,Ulrich Baumann,Torsten Witte,Reinhold E. Schmidt,G Dueckers,Tim Niehues,Suranjith L. Seneviratne,Maria Kanariou,Carsten Speckmann,Stephan Ehl,Anne Rensing-Ehl,Klaus Warnatz,Mirzokhid Rakhmanov,Robert Thimme,Peter Hasselblatt,Florian Emmerich,Toni Cathomen,Rolf Backofen,Paul Fisch,Maximilian Seidl,Annette M. May,Annette Schmitt-Graeff,Shinji Ikemizu,Ulrich Salzer,Andre Franke,Shimon Sakaguchi,Lucy S. K. Walker,David M. Sansom,Bodo Grimbacher +40 more
TL;DR: Taking together, mutations in CTLA4 resulting inCTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.
Journal ArticleDOI
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
Capucine Picard,H. Bobby Gaspar,Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Talal A. Chatila,Yanick J. Crow,Yanick J. Crow,Charlotte Cunningham-Rundles,Amos Etzioni,José Luis Franco,Steven M. Holland,Christoph Klein,Tomohiro Morio,Hans D. Ochs,Eric Oksenhendler,Jennifer M. Puck,Mimi L.K. Tang,Mimi L.K. Tang,Stuart G. Tangye,Stuart G. Tangye,Troy R. Torgerson,Kathleen E. Sullivan +22 more
TL;DR: The classification described here will serve as a critical reference for immunologists and researchers worldwide and the categorization and listing of 354 inborn errors of immunity are detailed.
Journal ArticleDOI
International consensus document (icon): common variable immunodeficiency disorders
Francisco A. Bonilla,Isil Barlan,Helen Chapel,Beatriz Tavares Costa-Carvalho,Charlotte Cunningham-Rundles,M. Teresa de la Morena,Francisco J. Espinosa-Rosales,Lennart Hammarström,Shigeaki Nonoyama,Isabella Quinti,John M. Routes,Mimi L.K. Tang,Klaus Warnatz +12 more
TL;DR: The International Collaboration in Asthma, Allergy and Immunology initiated an international coalition among the American Academy of Allergy, Asthma & Immunology; the European Academy of allergy and Clinical Immunology, and the World Allergy Organization on common variable immunodeficiency.
Iconographies supplémentaires de l'article : Practice parameter for the diagnosis and management of primary immunodeficiency
Francisco A. Bonilla,David A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Joyce T. Hsu,Michael D. Keller,Lisa Kobrynski,Hirsh D. Komarow,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,Ricardo U. Sorensen,James W. Verbsky,David I. Bernstein,Joann Blessing-Moore,David Lang,Richard A. Nicklas,John Oppenheimer,Jay M Portnoy,Christopher Randolph,Diane E. Schuller,Sheldon L. Spector,S. Tilles,Dana V. Wallace,D.A. Khan +27 more
TL;DR: This document incorporated the efforts of many participants, and no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters.
Journal ArticleDOI
Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009
Sung-Yun Pai,Brent R. Logan,Linda M. Griffith,Rebecca H. Buckley,Roberta E. Parrott,Christopher C. Dvorak,Neena Kapoor,Imelda C. Hanson,Alexandra H. Filipovich,Soma Jyonouchi,Kathleen E. Sullivan,Trudy N. Small,Lauri Burroughs,Suzanne Skoda-Smith,Ann E. Haight,Audrey Grizzle,Michael A. Pulsipher,Ka Wah Chan,Ramsay Fuleihan,Elie Haddad,Brett Loechelt,Victor M. Aquino,Alfred P. Gillio,Jeffrey H. Davis,Alan P. Knutsen,Angela R. Smith,Theodore B. Moore,Marlis L. Schroeder,Frederick D. Goldman,James A. Connelly,Matthew H. Porteus,Qun Xiang,William T. Shearer,Thomas A. Fleisher,Donald B. Kohn,Jennifer M. Puck,Luigi D. Notarangelo,Morton J. Cowan,Richard J. O'Reilly +38 more
TL;DR: Transplants from donors other than matched siblings were associated with excellent survival among infants with SCID identified before the onset of infection.
References
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A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia
Magdalena M. Gorska,Rafeul Alam +1 more
TL;DR: A heterozygous dominant-negative missense mutation (codon 22 GGC→GTC; V22G) of the signaling adaptor protein Uncoordinated 119 (Unc119) in an ICL patient is described, which represents a novel genetic defect in ICL.
Related Papers (5)
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard,Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Talal A. Chatila,Mary Ellen Conley,Charlotte Cunningham-Rundles,Amos Etzioni,Steven M. Holland,Christoph Klein,Shigeaki Nonoyama,Hans D. Ochs,Eric Oksenhendler,Jennifer M. Puck,Kathleen E. Sullivan,Mimi L.K. Tang,Mimi L.K. Tang,José Luis Franco,H. Bobby Gaspar +18 more