N

 

Nijmegen kırılma sendromu (Seemanova sendromu)

Spontan/Kalıtsal  - AR

Ataksi-telangiektazi hastalığının bir varyantı

Gelişme geriliği

Mikrosefali

Gözler çok belirgin-çekik

Yüz üçgen biçiminde

Gagamsı burun (kuş yüzü)

Filtrum silik

Kombine immun yetmezlik bulguları

Yineleyen infeksiyonlar (mastoidit, sinüzit, bronşit)

Otoimmun hemolitik anemi

Disgammaglobulinemi

KOAH bulguları

Malign tümör riski (lenfoma, lösemi, nöroblastoma, glioma, vd)

Deride erken yaşlanma

Progressif vitiligo

Menstrüasyon bozuklukları

Zeka geriliği

 

  • Jaspers NGJ, Taalman RDFM, Baan C. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. . American Journal of Human Genetics, 42: 66-73, 1988

  • Varon R, Dutrannoy V, Weikert Get al. Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Human Molecular Genetics, 15: 679-689, 2006

  • Dembowska-Baginska B, Perek D, Brozyna A, et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatric Blood & Cancer, 52(2):186-190, 2009

  • Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, et al. Nijmegen breakage syndrome: Clinical and immunological features, long-term outcome and treatment options - a retrospective analysis. Journal of Clinical Immunology, 35(6):538-549, 2015

  • Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. European Journal of Medical Genetics, 59(3):126-132, 2016