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Journals / Turkish Journal of Pediatrics / 2018 / Cilt: 60 - Sayı: 5

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

Dilek DOĞRUEL
Fatma Derya BULUT
MUSTAFA YILMAZ
Neslihan ÖNENLİ MUNGAN
Derya Ufuk ALTINTAŞ
Pages
584–587
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:In this report, we described an infant with both partial biotinidase and IL12Rβ1 deficiencies as these two entities are rare and unrelated inheriteddisorders.
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Key Findings & Data:Mutation analysis revealed a compoundheterozygous mutation BTD: c.1330G>C (p.Val444Leu) / c.196_197dupCATC(p.Leu69HisfsTer24).
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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Cite This Article

DOĞRUEL, D., BULUT, F. D., YILMAZ, M., MUNGAN, N. Ö., ALTINTAŞ, D. U. (2018). Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies. Turkish Journal of Pediatrics, Cilt: 60 - Sayı: 5, 584–587. https://ajindex.com/articles/412127

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References (8)

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