A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants

Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Her...

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Bibliographic Details
Published in:Modern rheumatology case reports 2023-12, Vol.8 (1), p.121-124
Main Authors: Parlar, Kerem, Tahir Turanli, Eda, Nuhoglu Kantarci, Eda, Hacioglu, Aysa, Kirectepe Aydin, Asli, Ayla, Ali Yagiz, Voyvoda, Umut, Ozdogan, Huri, Ugurlu, Serdal
Format: Article
Language:English
Subjects:
Adenosine Deaminase - genetics
Adult
Fever
Humans
Intercellular Signaling Peptides and Proteins - genetics
Male
Mutation
Phenotype
Polyarteritis Nodosa - complications
Polyarteritis Nodosa - diagnosis
Polyarteritis Nodosa - genetics
Pyrin - genetics
Young Adult
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Summary:Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2. A male patient, currently 29 years old, was initially diagnosed with FMF and developed livedo reticularis and nodular dermal lesions compatible with cutaneous polyarteritis nodosa (PAN) a year after diagnosis. His family history revealed a brother 2 years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischaemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.
ISSN:2472-5625
2472-5625
DOI:10.1093/mrcr/rxad045