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Case Report/Case Series |

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

Tania M.  Gonzalez Santiago, MD1; Andrey Zavialov, PhD2; Janna Saarela, MD, PhD3; Mikko Seppanen, MD, PhD4; Ann M. Reed, MD5; Roshini S. Abraham, PhD6; Lawrence E. Gibson, MD1
[+] Author Affiliations
1Department of Dermatology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
2Turku Center for Biotechnology, University of Turku, Turku, Finland
3Institute for Molecular Medicine Finland, University of Helsinki, Helsinki
4Immunodeficiency Unit, Inflammation Center, Helsinki University, Helsinki University Hospital, Helsinki, Finland
5Rheumatology Division, Department of Internal Medicine and Pediatrics, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
6Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota
JAMA Dermatol. 2015;151(11):1230-1234. doi:10.1001/jamadermatol.2015.1635.
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ABSTRACT

Importance  Mutations in the CERC1 gene associated with deficiency in the ADA2 protein (DADA2) have been implicated in the pathogenesis of cutaneous polyarteritis nodosa (cPAN) and early-onset vasculopathy. DADA2 is not only limited to cPAN and vasculopathy but also includes immunodeficiency that affects several cellular compartments, including B cells; however, some patients appear to have a more indolent, skin-limited disease.

Observations  In this report, we describe 2 white siblings (female and male) with a history of cPAN with DADA2 as a result of novel compound heterozygous mutations inherited in trans in the CECR1 gene (c.37_39del [p.K13del] and c.984C>A [p.N328K]). The onset of disease was earlier in the female sibling than the male sibling although both were diagnosed as having cPAN in early childhood. The disease is associated with a more significant immunodeficiency and other systemic symptoms in the female than the male sibling.

Conclusions and Relevance  These findings suggest a genetic cause of cPAN in some patients. Therefore, DADA2 should be considered in patients with cPAN, specifically in those whose conditions are diagnosed at an early age, regardless of their ethnicity, presence or absence of systemic symptoms, or a family history of the disease.

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Figure 1.
Clinical and Histologic Findings of Patient 1

A, Livedo racemosa on the lower extremities. B, Findings are more prominent on the more distal areas of the legs, such as the feet. C, Histopathologic analysis of a livedo area revealing nongranulomatous, necrotizing arteritis of a medium-sized vessel (hematoxylin-eosin, original magnification ×200).

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Figure 2.
Clinical and Histologic Findings of Patient 2

A, Multiple subcutaneous nodules with overlying slight erythema affecting the lower extremities. B, The plantar aspect of the left foot. C, Histopathologic analysis of a subcutaneous nodule revealing nongranulomatous, necrotizing arteritis of a medium-sized vessel (hematoxylin-eosin, original magnification ×200).

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