Chronic mucocutaneous ulceration

Definition:

Chronic mucocutaneous ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA, encoding the NF-kB subunit RelA, causes CMCU.

References:

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

[2]. Peter A Nigrovic, et al. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020 Nov;146(5):925-937. [Content Brief]

[3]. Yousef R Badran, et al. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 3;214(7):1937-1947. [Content Brief]

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