Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies

Özet

In this report, we described an infant with both partial biotinidase and IL12Rβ1 deficiencies as these two entities are rare and unrelated inheriteddisorders. One-month-old girl was diagnosed as partial biotinidase deficiencywith newborn screening programme. Mutation analysis revealed a compoundheterozygous mutation BTD: c.1330G>C (p.Val444Leu) / c.196_197dupCATC(p.Leu69HisfsTer24). At the age of 6 months, a nodule on her left axillawith purulent discharge was noticed which was related to BCG vaccination.A mutational analysis revealed a homozygous c.783+1G>A mutation on IL12Rβ1 gene. Interferon-gamma and anti-tuberculosis treatment were initiatedtogether and the nodule with purulent discharge regressed dramatically. Here,we want to emphasize consideration of coexistence of two rare autosomalrecessively inherited diseases in a patient due to the high rate of consanguinityin our country.