List of primary immunodeficiencies

This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.

The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.[1][2] A 2014 update of the classification guide added a 9th category and added 30 new gene defects from the prior 2009 version.[3][4] The most recent classification was released in 2019.[5] The number of identified conditions continues to grow over time as more research is done.

The impact of primary immunodeficiencies ranges from mild to severe based on the condition.[6]

  1. ^ Bousfiha, Aziz; Jeddane, Leïla; Picard, Capucine; Ailal, Fatima; Bobby Gaspar, H.; Al-Herz, Waleed; Chatila, Talal; Crow, Yanick J. (2018). "The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies". Journal of Clinical Immunology. 38 (1): 129–143. doi:10.1007/s10875-017-0465-8. ISSN 0271-9142. PMC 5742599. PMID 29226301.
  2. ^ Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D. (2020-01-01). "Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee". Journal of Clinical Immunology. 40 (1): 24–64. doi:10.1007/s10875-019-00737-x. ISSN 1573-2592. PMC 7082301. PMID 31953710.
  3. ^ Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; et al. (2014). "Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency" (PDF). Frontiers in Immunology. 5 (162): 1–33. doi:10.3389/fimmu.2014.00162. PMC 4001072. PMID 24795713. (Erratum: doi:10.3389/fimmu.2014.00460. If the erratum has been checked and does not affect the cited material, please replace {{erratum|...}} with {{erratum|...|checked=yes}}.)
  4. ^ Notarangelo L, Casanova JL, Conley ME, et al. (2006). "Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005". J. Allergy Clin. Immunol. 117 (4): 883–96. doi:10.1016/j.jaci.2005.12.1347. PMID 16680902.
  5. ^ Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D. (2020-01-01). "Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee". Journal of Clinical Immunology. 40 (1): 24–64. doi:10.1007/s10875-019-00737-x. ISSN 1573-2592. PMC 7082301. PMID 31953710.
  6. ^ "Common Variable Immune Deficiency". NORD (National Organization for Rare Disorders). Retrieved 5 March 2019.