Doğruel D, Bulut FD, Yılmaz M, Önenli-Mungan N, Altıntaş DU. Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies. Turk J Pediatr 2018; 60: 584-587. In this report, we described an infant with both partial biotinidase and IL-12Rβ1 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-12Rβ1 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.

Keywords: BCG, IL-12Rβ1 deficiency, MSMD, biotinidase deficiency, lymphadenitis