Familial Behcet-like autoinflammatory syndrome

Definition:

Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ulcers, and ocular inflammation.

References:

[1]. Gan Sun, et al. Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human. J Clin Immunol. 2022 May;42(4):798-810. [Content Brief]

[2]. Julia E Rood, et al. Inherited Autoinflammatory Syndromes. Annu Rev Pathol. 2022 Jan 24;17:227-249. [Content Brief]

[3]. Qing Zhou, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016 Jan;48(1):67-73. [Content Brief]

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