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]

Combined T and B–cell immunodeficiencies

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Genetic immunodeficiencies. (In general, those on the left are in Table I, while those on the right are in Table II, but there are exceptions.)

In these disorders both T lymphocytes and often B lymphocytes, regulators of adaptive immunity, are dysfunctional or decreased in number. The main members are various types of severe combined immunodeficiency (SCID).[7]

Predominantly antibody deficiencies

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In primary antibody deficiencies, one or more isotypes of immunoglobulin are decreased or don't function properly. These proteins, generated by plasma cells, normally bind to pathogens, targeting them for destruction.[7]

Other well defined immunodeficiency syndrome

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A number of syndromes escape formal classification but are otherwise recognizable by particular clinical or immunological features.[7]

Diseases of immune dysregulation

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In certain conditions, the regulation rather than the intrinsic activity of parts of the immune system is the predominant problem.[7]

Congenital defects of phagocyte number, function, or both

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Phagocytes are the cells that engulf and ingest pathogens (phagocytosis), and destroy them with chemicals. Monocytes/macrophages as well as granulocytes are capable of this process. In certain conditions, either the number of phagocytes is reduced or their functional capacity is impaired.[7]

Defects in innate immunity

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Several rare conditions are due to defects in the innate immune system, which is a basic line of defense that is independent of the more advanced lymphocyte-related systems. Many of these conditions are associated with skin problems.[7]

Autoinflammatory disorders

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Rather than predisposing for infections, most of the autoinflammatory disorders lead to excessive inflammation. Many manifest themselves as periodic fever syndromes. They may involve various organs directly, as well as predisposing for long-term damage (e.g. by leading to amyloid deposition).[7]

Complement deficiencies

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The complement system is part of the innate as well as the adaptive immune system; it is a group of circulating proteins that can bind pathogens and form a membrane attack complex. Complement deficiencies are the result of a lack of any of these proteins. They may predispose to infections but also to autoimmune conditions.[7]

Phenocopies of primary immune deficiencies

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References

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  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.
  7. ^ a b c d e f g h Notarangelo LD, Fischer A, Geha RS, et al. (December 2009). "Primary immunodeficiencies: 2009 update: The International Union of Immunological Societies (IUIS) Primary Immunodeficiencies (PID) Expert Committee". J. Allergy Clin. Immunol. 124 (6): 1161–78. doi:10.1016/j.jaci.2009.10.013. PMC 2797319. PMID 20004777.