Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor beta 1 and biotinidase deficiencies

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DOĞRUEL D. , BULUT F. D. , YILMAZ M. , Onenli-Mungan N., ALTINTAŞ D. U.

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.5, pp.584-587, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 60 Issue: 5
  • Publication Date: 2018
  • Doi Number: 10.24953/turkjped.2018.05.019
  • Page Numbers: pp.584-587


In this report, we described an infant with both partial biotinidase and IL-12R beta 1 deficiencies as these two entities are rare and unrelated inherited disorders. One-month-old girl was diagnosed as partial biotinidase deficiency with newborn screening programme. Mutation analysis revealed a compound heterozygous mutation BTD: c.1330G>C (p.Val444Leu) / c.196_197dupCATC (p.Leu69HisfsTer24). At the age of 6 months, a nodule on her left axilla with purulent discharge was noticed which was related to BCG vaccination. A mutational analysis revealed a homozygous c.783+1G>A mutation on IL-12R beta 1 gene. Interferon-gamma and anti-tuberculosis treatment were initiated together and the nodule with purulent discharge regressed dramatically. Here, we want to emphasize consideration of coexistence of two rare autosomal recessively inherited diseases in a patient due to the high rate of consanguinity in our country.