Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters

The Journal of Immunology : Official Journal of the American Association of Immunologists
Crina SamarghiteanMauno Vihinen

Abstract

The classification of diseases has several important applications ranging from diagnosis and choice of treatment to demographics. To date, classifications have been successfully created manually, often within international consortia. Some groups of diseases, such as primary immunodeficiencies (PIDs), are especially hard to nosologically cluster due, on one hand, to the presence of a wide variety of disorders and, in contrast, because of overlapping characteristics. More than 200 PIDs affecting components of the innate and adaptive immune systems have been described. Clinical, pathological, and laboratory characteristics were collected and used to group PIDs. A consensus of at least five independent methods provided a novel classification of 11 groups, which revealed previously unknown features and relationships of PIDs. Comparison of the classification to independent features, including the severity and therapy of the diseases, functional classification of proteins, and network vulnerability, indicated a strong statistical support. The method can be applied to any group of diseases.

References

Mar 1, 1992·Pediatric Dermatology·L De RaeveF Mascart-Lemone
Feb 1, 1984·Journal of Medical Genetics·S Aymé, M Preus
Feb 13, 1995·American Journal of Medical Genetics·A Verloes
Mar 1, 1996·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·W T ShearerL J Rosenwasser
Jun 9, 2000·Clinical and Experimental Dermatology·M M ChowdhuryC N Matthews
Apr 6, 2001·Physical Review Letters·R Pastor-Satorras, A Vespignani
Mar 23, 2002·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·Romualdo Pastor-Satorras, Alessandro Vespignani
Apr 4, 2002·Blood·Peter D ArkwrightAndrew J Cant
Sep 23, 2003·Current Opinion in Immunology·Paul G HeyworthJohn T Curnutte
Jan 22, 2004·Nature Reviews. Genetics·Albert-László Barabási, Zoltán N Oltvai
Mar 5, 2004·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·M E J Newman, M Girvan
Mar 5, 2004·Journal of Clinical Immunology·Crina SamarghiteanMauno Vihinen
Jun 11, 2005·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Francisco A BonillaUNKNOWN Joint Council of Allergy, Asthma and Immunology
Jul 20, 2005·Expert Reviews in Molecular Medicine·Richard C Laughlin, Lesly A Temesvari
Oct 22, 2005·Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology·A J WardlawR Green
Dec 27, 2005·Joint, Bone, Spine : Revue Du Rhumatisme·Christelle SordetJean Sibilia
Apr 26, 2006·Lupus·M Y Karim
May 10, 2006·The Journal of Allergy and Clinical Immunology·Luigi NotarangeloUNKNOWN International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Aug 2, 2006·Clinical and Experimental Immunology·E de Vries, UNKNOWN Clinical Working Party of the European Society for Immunodeficiencies (ESID)
Sep 28, 2006·Human Mutation·Hilkka PiiriläMauno Vihinen
Oct 10, 2006·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·M E J Newman
Jan 17, 2007·Clinical and Experimental Immunology·A-M Eades-PernerUNKNOWN ESID Registry Working Party
Jan 24, 2007·Bioinformatics·D GuzmanB Grimbacher
Feb 7, 2007·Infection and Immunity·Magda Carneiro-Sampaio, Antonio Coutinho
Mar 9, 2007·Nature Biotechnology·Kasper LageSøren Brunak
Mar 31, 2007·Immunome Research·Crina SamarghiteanMauno Vihinen
Apr 17, 2007·Cellular Immunology·Csaba Ortutay, Mauno Vihinen
May 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Kwang-Il GohAlbert-László Barabási
May 19, 2007·Journal of Clinical Immunology·Isabella QuintiUNKNOWN Italian Primary Immunodeficiency Network
May 26, 2007·Acta Paediatrica·L BottA Sardet
Jun 7, 2007·European Journal of Pediatrics·Charalampos AntachopoulosEmmanuel Roilides
Jun 26, 2007·Blood Reviews·Gritta E Janka
Jul 6, 2007·Pain Medicine : the Official Journal of the American Academy of Pain Medicine·Christine E ShefferKenneth Lofland
Sep 18, 2007·Advances in Immunology·Magda Carneiro-Sampaio, Antonio Coutinho
Sep 22, 2007·Journal of the American Academy of Dermatology·Nadège Wallet-FaberSylvie Fraitag
Oct 24, 2007·The Journal of Allergy and Clinical Immunology·Raif S GehaUNKNOWN International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Oct 26, 2007·Nature Reviews. Immunology·László Maródi, Luigi D Notarangelo
Nov 29, 2007·The American Journal of Surgical Pathology·Jason A DanielsElizabeth A Montgomery
Dec 18, 2007·Current Opinion in Immunology·Jacinta BustamanteJean-Laurent Casanova
Dec 18, 2007·Kidney International·E de Heer, D J M Peters
Feb 5, 2008·The Journal of Allergy and Clinical Immunology·Michael M Frank
Mar 11, 2008·Proceedings of the National Academy of Sciences of the United States of America·Igor FeldmanDennis Vitkup
Apr 22, 2008·Immunology and Allergy Clinics of North America·Alexandra H Filipovich
Apr 24, 2008·Immunome Research·Csaba Ortutay, Mauno Vihinen

❮ Previous
Next ❯

Citations

Sep 4, 2012·Journal of Clinical Immunology·Elena S ResnickCharlotte Cunningham-Rundles
Jul 11, 2013·Nature Reviews. Rheumatology·Gilles GrateauOlivier Steichen
Apr 28, 2017·PloS One·Gabriel N Teku, Mauno Vihinen
May 10, 2013·Journal of Clinical Immunology·Ahmed Aziz BousfihaJean-Laurent Casanova
Nov 20, 2016·Human Mutation·Mauno Vihinen
Aug 18, 2018·Frontiers in Immunology·Gabriel Ndipagbornchi Teku, Mauno Vihinen
Dec 3, 2011·Clinical and Experimental Immunology·E de Vries, UNKNOWN European Society for Immunodeficiencies (ESID) members
Nov 3, 2011·British Journal of Pharmacology·P V Soeiro-PereiraA Condino-Neto
Jun 9, 2020·Frontiers in Immunology·Kateryna PierzynowskaStefan G Pierzynowski

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Related Papers

The Journal of Allergy and Clinical Immunology
Raif S GehaInternational Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Journal of Clinical Immunology
A A BousfihaMoroccan Society for Primary Immunodeficiencies (MSPID)
Current Opinion in Allergy and Clinical Immunology
Crina Samarghitean, Mauno Vihinen
© 2022 Meta ULC. All rights reserved