Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor beta 1 and biotinidase deficiencies
TURKISH JOURNAL OF PEDIATRICS, cilt.60, sa.5, ss.584-587, 2018 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 60 Sayı: 5
- Basım Tarihi: 2018
- Doi Numarası: 10.24953/turkjped.2018.05.019
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.584-587
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Çukurova Üniversitesi Adresli: Evet
Özet
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.