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Journals / Astım Allerji İmmünoloji / 2016 / Cilt: 14 - Sayı: 2

Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

Nijmegen Breakage Sendromu; Farklı Fenotipte İki Kardeş

Ayça KIYKIM
Elif KARAKOÇ AYDINER
İSMAİL ÖĞÜLÜR
Safa BARIŞ
Ahmet ÖZEN
Kamil SERİFOV
Güney BADEMCİ
Mustafa TEKİN
Nursel H. ELÇİOĞLU
Işıl BARLAN
Pages
98–102
DOI
—
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AI Summary & Key Takeaways

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

Both siblings are homozygous for the c.657_661delACAAA (p.Lys219Asnfs*16) mutation in the NBN (NBS1) gene.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The Nijmegen Breakage syndrome (NBS) is characterized by chromosomal instability, combined immunodeficiency, and distinctive physical features.
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Key Findings & Data:The proband is a 6-year-old female with short stature, microcephaly, hepatosplenomegaly, rectovaginal fistula, anal atresia, an ectopic kidney, recurrent fevers and otitis media.
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Conclusion & Impact:Both siblings are homozygous for the c.657_661delACAAA (p.Lys219Asnfs*16) mutation in the NBN (NBS1) gene.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The Nijmegen Breakage syndrome (NBS) is characterized by chromosomal instability, combined immunodeficiency, and distinctive physical features. We present two siblings with NBS presenting with strikingly different manifestations. The proband is a 6-year-old female with short stature, microcephaly, hepatosplenomegaly, rectovaginal fistula, anal atresia, an ectopic kidney, recurrent fevers and otitis media. A 7-year-old brother has developmental delay, failure to thrive, and microcephaly without recurring infections. Both patients have hypogammaglobulinemia, B cell lymphopenia and reduced phytohaemagglutinin-induced lymphocyte proliferation. Both siblings are homozygous for the c.657_661delACAAA (p.Lys219Asnfs*16) mutation in the NBN (NBS1) gene.

Özet

Nijmegen Breakage sendromu (NBS); kromozomal instabilite, kombine immün yetmezlik ve ayırd edici fiziksel özelliklerle karakterizedir. Burada farklı klinik belirtiler gösteren iki kardeş sunulmaktadır. İndeks olgu olan 6 yaşında kız hastada boy kısalığı, mikrosefali, hepatosplenomegali, rektovajinal fistül, anal atrezi, ektopik böbrek, tekrarlayan ateş ve otit mevcuttu. Yedi yaşında erkek kardeşinde ise tekrarlayan enfeksiyon öyküsü olmaksızın gelişme geriliği, nöromotor gerilik ve mikrosefali saptandı. Her iki kardeşte de hipogammaglobulinemi, B hücre lenfopenisi ve fitohemaglütinin ile lenfosit proliferasyon yanıtında azalma gözlendi. Her iki hastada NBN (NBS1) geninde homozigot c.657_661delACAAA (p.Lys219Asnfs*16) mutasyonu saptandı.

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Cite This Article

KIYKIM, A., AYDINER, E. K., ÖĞÜLÜR, İ., BARIŞ, S., ÖZEN, A., SERİFOV, K., BADEMCİ, G., TEKİN, M., ELÇİOĞLU, N. H., BARLAN, I. (2016). Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes. Astım Allerji İmmünoloji, Cilt: 14 - Sayı: 2, 98–102. https://ajindex.com/articles/148915

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