Nijmegen breakage syndrome

Common Name(s)

Nijmegen breakage syndrome, Ataxia Telangiectasia Variant V1

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nijmegen breakage syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nijmegen breakage syndrome" returned 66 free, full-text research articles on human participants. First 3 results:

Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
 

Author(s): Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Mateusz Maciejczyk, Halina Car, Jolanta Sawicka-Powierza, Radosław Motkowski, Joanna Karpinska, Marta Hryniewicka, Anna Zalewska, Malgorzata Pac, Beata Wolska-Kusnierz, Ewa Bernatowska, Bozena Mikoluc

Journal: Oxid Med Cell Longev. 2017 ;2017():6745840.

 

This study compared the antioxidant status and major lipophilic antioxidants in patients with ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS). Total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and concentrations of coenzyme Q10 ...

Last Updated: 31 Dec 1969

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Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
 

Author(s): Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak

Journal: J. Clin. Immunol.. 2017 Feb;37(2):133-142.

 

The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN ...

Last Updated: 31 Dec 1969

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Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.
 

Author(s): Tomer Halevy, Shira Akov, Martina Bohndorf, Barbara Mlody, James Adjaye, Nissim Benvenisty, Michal Goldberg

Journal: Cell Rep. 2016 08;16(9):2499-511.

 

Nijmegen breakage syndrome (NBS) results from the absence of the NBS1 protein, responsible for detection of DNA double-strand breaks (DSBs). NBS is characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Here, we show successful reprogramming ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nijmegen breakage syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
 

Author(s): Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car

Journal: Redox Biol. 2017 04;11():375-383.

 

Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some ...

Last Updated: 31 Dec 1969

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Nijmegen breakage syndrome and chronic polyarthritis.
 

Author(s): Srdjan Pasic, Maja Cupic, Tanja Jovanovic, Slobodanka Djukic, Maja Kavaric, Ivana Lazarevic

Journal:

 

We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary ...

Last Updated: 31 Dec 1969

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Nijmegen breakage syndrome (NBS).
 

Author(s): Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed

Journal:

 

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.