Resulting from inborn deficiencies in immune system
This article needs to be updated. Please help update this article to reflect recent events or newly available information.(March 2019)
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally.[1] To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. While there are over 430 recognized inborn errors of immunity (IEIs) as of 2019, the vast majority of which are PIDs, most are very rare.[2][3][4] About 1 in 500 people in the United States are born with a primary immunodeficiency.[5] Immune deficiencies can result in persistent or recurring infections, auto-inflammatory disorders, tumors, and disorders of various organs. There are currently limited treatments available for these conditions; most are specific to a particular type of PID. Research is currently evaluating the use of stem cell transplants (HSCT) and experimental gene therapies as avenues for treatment in limited subsets of PIDs.
^Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Monga I, Alkelai A, et al. (February 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nature Communications. 13 (1): 800. Bibcode:2022NatCo..13..800E. doi:10.1038/s41467-022-28343-3. PMC 8831607. PMID 35145093.
^Casanova JL, Abel L (January 2021). "Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories". Annual Review of Pathology. 16: 23–50. doi:10.1146/annurev-pathol-031920-101429. PMC 7923385. PMID 32289233.
^Notarangelo LD, Bacchetta R, Casanova JL, Su HC (July 2020). "Human inborn errors of immunity: An expanding universe". Science Immunology. 5 (49): eabb1662. doi:10.1126/sciimmunol.abb1662. PMC 7647049. PMID 32651211.
^Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. (January 2020). "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. PMC 7082301. PMID 31953710.
^Lim MS, Elenitoba-Johnson KS (May 2004). "The molecular pathology of primary immunodeficiencies". The Journal of Molecular Diagnostics. 6 (2): 59–83. doi:10.1016/S1525-1578(10)60493-X. PMC 1867474. PMID 15096561.
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