Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ß1 and biotinidase deficiencies.
Turk J Pediatr
; 60(5): 584-587, 2018.
Article
em En
| MEDLINE
| ID: mdl-30968642
ABSTRACT
Dogruel D, Bulut FD, Yilmaz M, Önenli-Mungan N, Altintas DU. Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ß1 and biotinidase deficiencies. Turk J Pediatr 2018; 60 584-587. In this report, we described an infant with both partial biotinidase and IL-12Rß1 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-12Rß1 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência de Biotinidase
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Receptores de Interleucina-12
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Síndromes de Imunodeficiência
Limite:
Female
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Turquia