The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 5
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies
Dilek Doğruel 1 ,Fatma Derya Bulut 2 ,Mustafa Yılmaz 1 ,Neslihan Önenli-Mungan 2 ,Derya Ufuk Altıntaş 1
1 Division of Allergy and Immunology, Çukurova University Faculty of Medicine, Adana, Turkey
2 Metabolism and Nutrition, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
DOI : 10.24953/turkjped.2018.05.019 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, lymphadenitis, biotinidase deficiency, IL-12Rβ1 deficiency, MSMD

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