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; Talal Chatila; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; H. Bobby Gaspar; Steven M. Holland; Christoph Klein; Shigeaki Nonoyama; Hans D. Ochs; Erik Oksenhendler; Capucine Picard; Jennifer M. Puck; Kate Sullivan; Mimi L.K. Tang

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, Aziz Bousfiha, Jean Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, H. Bobby Gaspar, Steven M. Holland, Christoph Klein, Shigeaki Nonoyama, Hans D. Ochs, Erik Oksenhendler, Capucine Picard, Jennifer M. Puck, Kate Sullivan, Mimi L.K. Tang

Research output: Contribution to journal › Article › peer-review

402 Scopus citations

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.

Original language	English
Article number	Article 162
Journal	Frontiers in Immunology
Volume	5
Issue number	APR
DOIs	https://doi.org/10.3389/fimmu.2014.00162
State	Published - 2014

Keywords

Classification
Genetic defects
Genotype
IUIS
Primary immunodeficiencies

Access to Document

10.3389/fimmu.2014.00162

Cite this

Al-Herz, W., Bousfiha, A., Casanova, J. L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Gaspar, H. B., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J. M., Sullivan, K., & Tang, M. L. K. (2014). Primary immunodeficiency diseases: An update on the classification from the International Union of immunological societies expert committee for primary immunodeficiency. Frontiers in Immunology, 5(APR), Article Article 162. https://doi.org/10.3389/fimmu.2014.00162

@article{6800bfbd21cc4b709e96ee7a797a2834,

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.",

keywords = "Classification, Genetic defects, Genotype, IUIS, Primary immunodeficiencies",

author = "Waleed Al-Herz and Aziz Bousfiha and Casanova, {Jean Laurent} and Talal Chatila and Conley, {Mary Ellen} and Charlotte Cunningham-Rundles and Amos Etzioni and Franco, {Jose Luis} and Gaspar, {H. Bobby} and Holland, {Steven M.} and Christoph Klein and Shigeaki Nonoyama and Ochs, {Hans D.} and Erik Oksenhendler and Capucine Picard and Puck, {Jennifer M.} and Kate Sullivan and Tang, {Mimi L.K.}",

year = "2014",

doi = "10.3389/fimmu.2014.00162",

language = "English",

volume = "5",

journal = "Frontiers in Immunology",

issn = "1664-3224",

publisher = "Frontiers Media S.A.",

number = "APR",

}

Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Gaspar, HB, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Picard, C, Puck, JM, Sullivan, K & Tang, MLK 2014, 'Primary immunodeficiency diseases: An update on the classification from the International Union of immunological societies expert committee for primary immunodeficiency', Frontiers in Immunology, vol. 5, no. APR, Article 162. https://doi.org/10.3389/fimmu.2014.00162

TY - JOUR

T1 - Primary immunodeficiency diseases

T2 - An update on the classification from the International Union of immunological societies expert committee for primary immunodeficiency

AU - Al-Herz, Waleed

AU - Bousfiha, Aziz

AU - Casanova, Jean Laurent

AU - Chatila, Talal

AU - Conley, Mary Ellen

AU - Cunningham-Rundles, Charlotte

AU - Etzioni, Amos

AU - Franco, Jose Luis

AU - Gaspar, H. Bobby

AU - Holland, Steven M.

AU - Klein, Christoph

AU - Nonoyama, Shigeaki

AU - Ochs, Hans D.

AU - Oksenhendler, Erik

AU - Picard, Capucine

AU - Puck, Jennifer M.

AU - Sullivan, Kate

AU - Tang, Mimi L.K.

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Classification

KW - Genetic defects

KW - Genotype

KW - IUIS

KW - Primary immunodeficiencies

UR - http://www.scopus.com/inward/record.url?scp=84900846113&partnerID=8YFLogxK

U2 - 10.3389/fimmu.2014.00162

DO - 10.3389/fimmu.2014.00162

M3 - Article

AN - SCOPUS:84900846113

SN - 1664-3224

VL - 5

JO - Frontiers in Immunology

JF - Frontiers in Immunology

IS - APR

M1 - Article 162

ER -

Primary immunodeficiency diseases: An update on the classification from the International Union of immunological societies expert committee for primary immunodeficiency

Abstract

Keywords

Access to Document

Fingerprint

Cite this