“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease

Sam J. Olyha, Shannon K. O’Connor, Marat Kribis, Molly L. Bucklin, Dinesh Babu Uthaya Kumar, Paul M. Tyler, Faiad Alam, Kate M. Jones, Hassan Sheikha, Liza Konnikova, Saquib A. Lakhani, Ruth R. Montgomery, Jason Catanzaro, Hongqiang Du, Daniel V. DiGiacomo, Holly Rothermel, Christopher J. Moran, Karoline Fiedler, Neil Warner, Esther P.A.H. HoppenreijsCaspar I. van der Made, Alexander Hoischen, Peter Olbrich, Olaf Neth, Alejandro Rodríguez-Martínez, José Manuel Lucena Soto, Annemarie M.C. van Rossum, Virgil A.S.H. Dalm, Aleixo M. Muise, Carrie L. Lucas*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)


Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet’s- and inflammatory bowel disease (IBD)-like disorder termed “deficiency in ELF4, X-linked” (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, gastrointestinal symptoms, arthritis, arthralgia, and myalgia, with findings of increased inflammatory markers, anemia, neutrophilic leukocytosis, thrombocytosis, intermittently low natural killer and class-switched memory B cells, and increased inflammatory cytokines in the serum. Patients have been predominantly treated with anti-inflammatory agents, with the majority of DEX patients treated with biologics targeting TNFα.

Original languageEnglish
Article number44
Number of pages19
JournalJournal of Clinical Immunology
Issue number2
Publication statusPublished - 17 Jan 2024

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© 2024, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.


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