PLAID syndrome
| PLAID syndrome | |
|---|---|
| Synonyms | PLCG2-associated antibody deficiency and immune dysregulation |
PLAID syndrome is a inherited condition characterised by antibody deficiency and immune dysregulation, first described in 2012. The name is an acronym of "PLCG2-associated antibody deficiency and immune dysregulation". It is characterised by cold-induced urticaria, autoimmunity, atopy and humoral immune deficiency.[1]
Familial cold urticaria presents similar symptoms.[2]
References
- ↑ Milner, JD (August 2015). "PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes". Journal of clinical immunology. 35 (6): 527–30. doi:10.1007/s10875-015-0177-x. PMC 4575258. PMID 26206677.
- ↑ Kanazawa, N (February 2014). "Hereditary disorders presenting with urticaria". Immunology and allergy clinics of North America. 34 (1): 169–79. doi:10.1016/j.iac.2013.08.001. PMID 24262697.
Further reading
- Ombrello, MJ; et al. (26 January 2012). "Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions". The New England Journal of Medicine. 366 (4): 330–8. doi:10.1056/NEJMoa1102140. PMC 3298368. PMID 22236196.
External links
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| External resources |
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