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Late-onset adenosine deaminase deficiency presenting with Heck’s disease

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Abstract

Focal epithelial hyperplasia, also known as Heck’s disease, is a rare but distinctive entity of viral etiology with characteristic clinical and histopathological features. It is a benign, asymptomatic disease of the oral mucosa caused by human papilloma viruses (HPV). Previous studies postulated an association between these lesions and immunodeficiency. Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA-SCID), and milder, later onset immunodeficiency. We report a 12-year-old girl with the late onset-ADA deficiency presenting with Heck’s disease. Our case report should draw attention to the possibility of immunodeficiency in patients with HPV-induced focal epithelial hyperplasia.

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Abbreviations

ADA:

Adenosine deaminase deficiency

CVID:

Common variable immunodeficiency

FEH:

Focal epithelial hyperplasia

HPV:

Human papilloma virus

IVIG:

Intravenous immunoglobulin

PHA:

Phytohemagglutinin

SCID:

Severe combined immunodeficiency

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Conflict of interests

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatric Immunology and Allergy, Meram Medical Faculty, Selcuk University, Beysehir yolu, 42080, Konya, Turkey

    Hasibe Artac, Bahar Göktürk, Sefika Elmas Bozdemir & Ismail Reisli

  2. Department of Pathology, Meram Medical Faculty, Selcuk University, Konya, Turkey

    Hatice Toy

  3. Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands

    Mirjam van der Burg

  4. Department of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, 27710, USA

    Ines Santisteban & Michael Hershfield

Authors
  1. Hasibe Artac
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  2. Bahar Göktürk
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  3. Sefika Elmas Bozdemir
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  4. Hatice Toy
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  5. Mirjam van der Burg
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  6. Ines Santisteban
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  7. Michael Hershfield
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  8. Ismail Reisli
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Correspondence to Hasibe Artac.

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Artac, H., Göktürk, B., Bozdemir, S.E. et al. Late-onset adenosine deaminase deficiency presenting with Heck’s disease. Eur J Pediatr 169, 1033–1036 (2010). https://doi.org/10.1007/s00431-009-1131-9

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  • DOI: https://doi.org/10.1007/s00431-009-1131-9

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