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