Table 3.

Monogenic Disorders of Interest in the Differential Diagnosis of Haploinsufficiency of A20

GeneDisorderMOIFeatures of Disorder
Overlapping w/HA20Distinguishing from HA20
ELF4 Familial Behçet-like autoinflammatory disease 2 (OMIM 301074)XLEarly-onset autoinflammatory syndrome w/oral ulcers as most common feature & autoantibodies in some personsGenital ulcers are not reported; may involve recurrent mucosal fungal infections.
OTULIN Autoinflammation, panniculitis, & dermatosis syndrome (OMIM 615712)ARDiarrhea, leukocytosis, neutrophilia, & ↑ serum CRPOtulipenia typically has more panniculitis & lipodystrophy
RELA Familial Behçet-like autoinflammatory disease 3 (OMIM 618287)ADCharacterized by oral & genital ulcersNot assoc w/pathogenic autoantibodies &/or significant autoimmunity

AD = autosomal dominant; AR = autosomal recessive; CRP = C-reactive protein; HA20 = haploinsufficiency of A20; MOI = mode of inheritance; XL = X-linked

From: Haploinsufficiency of A20

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.