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1. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Bousfiha, A, Jeddane, L, Picard, C, Ailal, F, Gaspar, HB, Al-Herz, W, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Casanova, J-L, Sullivan, KE, Bousfiha, A, Jeddane, L, Picard, C, Ailal, F, Gaspar, HB, Al-Herz, W, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Casanova, J-L, and Sullivan, KE

Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

Published
2018

2. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Author

Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, Sullivan, KE, Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Luis Franco, J, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Puck, J, Tang, MLK, Tangye, SG, Torgerson, TR, and Sullivan, KE

Abstract

Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide.

Published
2018

3. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Author

Puck, Jennifer, Puck, Jennifer, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, Klein, C, Puck, Jennifer, Puck, Jennifer, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, and Klein, C

Abstract

© 2015, The Author(s).We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous ve

Published
2015

4. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Puck, Jennifer, Puck, Jennifer, Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J, Chatila, T, Conley, ME, Cunningham, C, Etzioni, A, Franco, JL, Puck, Jennifer, Puck, Jennifer, Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J, Chatila, T, Conley, ME, Cunningham, C, Etzioni, A, and Franco, JL

Abstract

© 2015 Springer Science+Business Media New York There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a gr

Published
2015

5. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J-L, 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, KE, Tang, MLK, Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J-L, 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, KE, and Tang, MLK

Abstract

There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.

Published
2015

6. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Author

Picard, C, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Puck, JM, Sullivan, KE, Tang, MLK, Franco, JL, Gaspar, HB, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, J-L, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, Klein, C, Nonoyama, S, Ochs, HD, Oksenhendler, E, Puck, JM, Sullivan, KE, Tang, MLK, Franco, JL, and Gaspar, HB

Abstract

We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.

Published
2015

7. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Author

Puck, Jennifer, Puck, Jennifer, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, Klein, C, Puck, Jennifer, Puck, Jennifer, Picard, C, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Holland, SM, and Klein, C

Abstract

© 2015, The Author(s).We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous ve

Published
2015

8. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Puck, Jennifer, Puck, Jennifer, Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J, Chatila, T, Conley, ME, Cunningham, C, Etzioni, A, Franco, JL, Puck, Jennifer, Puck, Jennifer, Bousfiha, A, Jeddane, L, Al-Herz, W, Ailal, F, Casanova, J, Chatila, T, Conley, ME, Cunningham, C, Etzioni, A, and Franco, JL

Abstract

© 2015 Springer Science+Business Media New York There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a gr

Published
2015

9. Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Author

Al-Herz, W, 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, ML, Al-Herz, W, 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, and Tang, ML

Abstract

[This corrects the article on p. 162 in vol. 5, PMID: 24795713.].

Published
2014

10. Primary Immune Deficiency Treatment Consortium (PIDTC) report

Author

Griffith, L.M. (Linda), Cowan, M. (Morton), Notarangelo, L.D. (Luigi Daniele), Kohn, R. (Robert), Puck, J. (Jennifer), Pai, S.-Y. (Sung-Yun), Ballard, B. (Barbara), Bauer, S.C. (Sarah), Bleesing, J. (Jack), Boyle, M. (Marcia), Brower, R.W. (Ronald), Buckley, R.H. (Rebecca), Burg, M. (Mirjam) van der, Burroughs, L.M. (Lauri), Candotti, F. (Fabio), Cant, A. (Andrew), Chatila, T. (Talal), Cunningham-Rundles, C. (Charlotte), Dinauer, M.C. (Mary), Dvorak, J. (Jennie), Filipovich, A. (Alexandra), Fleisher, L.A. (Lee), Gaspar, H.B. (Bobby), Gungor, T. (Tayfun), Haddad, E. (Elie), Hovermale, E. (Emily), Huang, F. (Faith), Hurley, A. (Alan), Hurley, M. (Mary), Iyengar, S.K. (Sudha), Kang, E.M. (Elizabeth), Logan, B.R. (Brent), Long-Boyle, J.R. (Janel), Malech, H. (Harry), McGhee, S.A. (Sean), Modell, S. (Sieglinde), Ochs, H.D. (Hans), O'Reilly, R.J. (Richard), Parkman, R. (Robertson), Rawlings, D. (D.), Routes, J.M. (John), Shearer, P. (P.), Small, T.N. (Trudy), Smith, H. (H.), Sullivan, K.E. (Kathleen), Szabolcs, P. (Paul), Thrasher, A.J. (Adrian), Torgerson, D., Veys, P. (Paul), Weinberg, K. (Kenneth), Zuniga-Pflucker, J.C. (Juan Carlos), Griffith, L.M. (Linda), Cowan, M. (Morton), Notarangelo, L.D. (Luigi Daniele), Kohn, R. (Robert), Puck, J. (Jennifer), Pai, S.-Y. (Sung-Yun), Ballard, B. (Barbara), Bauer, S.C. (Sarah), Bleesing, J. (Jack), Boyle, M. (Marcia), Brower, R.W. (Ronald), Buckley, R.H. (Rebecca), Burg, M. (Mirjam) van der, Burroughs, L.M. (Lauri), Candotti, F. (Fabio), Cant, A. (Andrew), Chatila, T. (Talal), Cunningham-Rundles, C. (Charlotte), Dinauer, M.C. (Mary), Dvorak, J. (Jennie), Filipovich, A. (Alexandra), Fleisher, L.A. (Lee), Gaspar, H.B. (Bobby), Gungor, T. (Tayfun), Haddad, E. (Elie), Hovermale, E. (Emily), Huang, F. (Faith), Hurley, A. (Alan), Hurley, M. (Mary), Iyengar, S.K. (Sudha), Kang, E.M. (Elizabeth), Logan, B.R. (Brent), Long-Boyle, J.R. (Janel), Malech, H. (Harry), McGhee, S.A. (Sean), Modell, S. (Sieglinde), Ochs, H.D. (Hans), O'Reilly, R.J. (Richard), Parkman, R. (Robertson), Rawlings, D. (D.), Routes, J.M. (John), Shearer, P. (P.), Small, T.N. (Trudy), Smith, H. (H.), Sullivan, K.E. (Kathleen), Szabolcs, P. (Paul), Thrasher, A.J. (Adrian), Torgerson, D., Veys, P. (Paul), Weinberg, K. (Kenneth), and Zuniga-Pflucker, J.C. (Juan Carlos)

Abstract

The Primary Immune Deficiency Treatment Consortium (PIDTC) is a network of 33 centers in North America that study the treatment of rare and severe primary immunodeficiency diseases. Current protocols address the natural history of patients treated for severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and chronic granulomatous disease through retrospective, prospective, and cross-sectional studies. The PIDTC additionally seeks to encourage training of junior investigators, establish partnerships with European and other International colleagues, work with patient advocacy groups to promote community awareness, and conduct pilot demonstration projects. Future goals include the conduct of prospective treatment studies to determine optimal therapies for primary immunodeficiency diseases. To date, the PIDTC has funded 2 pilot projects: newborn screening for SCID in Navajo Native Americans and B-cell reconstitution in patients with SCID after hematopoietic stem cell transplantation. Ten junior investigators have received grant awards. The PIDTC Annual Scientific Workshop has brought together consortium members, outside speakers, patient advocacy groups, and young investigators and trainees to report progress of the protocols and discuss common interests and goals, including new scientific developments and future directions of clinical research. Here we report the progress of the PIDTC to date, highlights of the first 2 PIDTC workshops, and consideration of future consortium objectives.

Published
2014
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11. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

Author

Al-Herz, W, Bousfiha, A, Casanova, J-L, 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, Al-Herz, W, Bousfiha, A, Casanova, J-L, 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, and Tang, MLK

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.

Published
2014

12. Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Author

Al-Herz, W, 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, ML, Al-Herz, W, 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, and Tang, ML

Abstract

[This corrects the article on p. 162 in vol. 5, PMID: 24795713.].

Published
2014

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