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The same mutation in a family with adenosine deaminase 2 deficiency

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Abstract

The deficiency of adenosine deaminase 2 (DADA2) has recently been defined as a monogenetic autosomal recessive autoinflammatory disease. DADA2 is mainly characterized by high fever, livedo racemose, early-onset stroke, mild immunodeficiency and clinically polyarteritis nodosa (PAN)-like symptoms. Mutations in CECR1 (cat eye syndrome chromosome region, candidate 1) are responsible for DADA2. Livedoid racemose, lacunar infarct due to involvement in small vessel of the central nervous system, peripheral neuropathy, digital ulcers and loss of fingers are predominantly seen in the disease which could progress to end-stage organ failure and death in some patients. A wide spectrum of severity in phenotype as well as in the age of onset has been reported in the literature. This phenotypic variability is also found in our clinical practice even in patients with the same mutation. Here, we present a family diagnosed with DADA2, with the previously reported p.Gly47Arg mutation in CECR1.

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Authors and Affiliations

  1. Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, Health Sciences University, Elmalıkent Cad 34100, Umraniye, Istanbul, Turkey

    Betul Sozeri, Gozde Ercan & Ferhat Demir

  2. Department of Pediatric Genetics, Umraniye Training and Research Hospital, Health Sciences University, Istanbul, Turkey

    Ozlem Akgun Dogan

  3. Genomic Laboratory (GLAB), Umraniye Training and Research Hospital, Health Sciences University, Istanbul, Turkey

    Jale Yıldız & Levent Doğanay

Authors
  1. Betul Sozeri
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  2. Gozde Ercan
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  3. Ozlem Akgun Dogan
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  4. Jale Yıldız
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  5. Ferhat Demir
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  6. Levent Doğanay
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All authors contributed to the conception or design of the work and take full responsibility for the integrity of the study and the manuscript.

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Correspondence to Betul Sozeri.

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Sozeri, B., Ercan, G., Dogan, O.A. et al. The same mutation in a family with adenosine deaminase 2 deficiency. Rheumatol Int 41, 227–233 (2021). https://doi.org/10.1007/s00296-019-04444-z

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  • DOI: https://doi.org/10.1007/s00296-019-04444-z

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