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PubMed This is a summary of 58 peer-reviewed journal articles Updated
Pediatric Immunology

Nijmegen breakage syndrome: A Patient Guide

At a Glance

Nijmegen breakage syndrome is a rare genetic DNA-repair disorder that can cause microcephaly, developmental differences, immune deficiency, and high lymphoma and leukemia risk. Children benefit from coordinated specialist care, cancer surveillance, and avoiding nonessential ionizing radiation.

Nijmegen breakage syndrome (NBS) is an exceptionally rare genetic condition that fundamentally changes how a child’s body maintains and repairs its DNA. At its core, NBS is a DNA-repair disorder caused by an impaired or dysfunctional protein called nibrin [1]. In a healthy body, nibrin acts as a first responder to breaks in the DNA “instruction manual” that occur naturally every day. Without functional nibrin, these breaks remain unrepaired, leading to genomic instability—a state where the body’s cells are fragile and prone to errors as they grow and divide [2][3].

This underlying instability manifests in a specific group of physical and developmental features. Many children with NBS are born with or develop a small head size (microcephaly) and may experience slower physical growth and varying degrees of developmental delay or learning differences [4]. Because the immune system relies on rapid and precise cell division to protect the body, children with NBS also face a combined immunodeficiency. This means they are more susceptible to frequent and sometimes severe respiratory infections, as their bodies struggle to produce the necessary specialized cells and antibodies to fight off germs [5][6].

The most significant long-term challenge of NBS is an exceptionally high risk for certain types of cancer, particularly lymphoma and leukemia. Because their cells cannot fix DNA damage, children with NBS are highly sensitive to environmental factors that other bodies can normally handle. This makes the avoidance of nonessential ionizing radiation—such as standard X-rays and CT scans—a critical safety precaution, though medically necessary emergency imaging should never be delayed [7]. Exposure to these diagnostic tools can increase the risk of triggering a malignancy [8][9], so the medical team will prioritize alternatives like MRI or ultrasound when diagnostically appropriate, or optimize the dose if an X-ray or CT is truly required.

Living with NBS requires a shift toward a highly proactive, specialized model of care. Your child’s health is best managed by a multidisciplinary team at a specialized pediatric cancer predisposition center, where experts in immunology, oncology, and genetics work together to monitor your child’s health through safe, radiation-free methods [10][11]. While the diagnosis is a significant life event, focusing on this coordinated surveillance and protective management allows you to build a structured path forward, ensuring your child has the expert support they need at every stage of their development [12][13].

In this guide

6 chapters

01

Your Journey with Nijmegen Breakage Syndrome

Learn what Nijmegen Breakage Syndrome means for your child, including symptoms, cancer risk, coordinated care, radiation safety, and practical family support.

02

The Biology and Genetics of NBS

Learn how Nijmegen breakage syndrome affects DNA repair, how NBN mutations are inherited, and which genetic tests confirm a diagnosis in your child and family.

03

How NBS Affects Growth and the Immune System

Learn how Nijmegen breakage syndrome affects a child’s growth, development, immunity, infections, and ovarian health, plus questions to ask your care team.

04

Understanding Cancer Risk and the Power of Surveillance

Learn how Nijmegen breakage syndrome raises childhood cancer risk and how surveillance, blood tests, symptom checks, and safer imaging help protect children.

05

Specialized Care and Treatment Strategies for NBS

Learn how Nijmegen breakage syndrome care supports the immune system, adapts cancer treatment, and considers IVIG, HSCT, and reduced-intensity conditioning.

06

Daily Management, Red Flags, and the Future

Learn daily care for Nijmegen breakage syndrome, including infection and cancer warning signs, radiation precautions, school support, and planning for adult care.

Common questions in this guide

What is Nijmegen breakage syndrome?
Nijmegen breakage syndrome is a rare genetic disorder caused by impaired nibrin, a protein that helps repair breaks in DNA. Unrepaired DNA damage can affect growth and development, weaken immune defenses, and raise the risk of certain cancers.
What symptoms can Nijmegen breakage syndrome cause in children?
Children may have a small head size called microcephaly, slower growth, developmental delay, or learning differences. They can also have combined immune deficiency, which makes frequent or severe respiratory infections more likely.
Why should children with NBS avoid X-rays and CT scans?
NBS makes cells unusually sensitive to ionizing radiation, which can add to the risk of cancer. The medical team may choose MRI or ultrasound when those tests can provide the needed information, but medically necessary emergency imaging should not be delayed.
What cancers are children with Nijmegen breakage syndrome at risk for?
Nijmegen breakage syndrome is associated with a particularly high risk of lymphoma and leukemia. A specialized care team can create a surveillance plan and investigate concerning symptoms promptly.
Which specialists should care for a child with NBS?
Care is best coordinated through a multidisciplinary pediatric center familiar with DNA-repair disorders. The team may include immunology, oncology, and genetics specialists who coordinate immune assessment, cancer surveillance, and radiation-safety decisions.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How soon can we be connected with a multidisciplinary center that specializes in DNA repair disorders?
  2. 2.Can you help us identify the key 'gatekeeper' on our child's medical team who will oversee radiation safety across all departments?
  3. 3.What is the first step in assessing our child's specific immune status and cancer surveillance needs?
  4. 4.How can we help our child's school and other caregivers understand the importance of minimizing ionizing radiation?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (13)
  1. 1

    Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.

    Saito Y, Komatsu K

    Biomolecules 2015; (5(3)):1990-2002 doi:10.3390/biom5031990.

    PMID: 26308066
  2. 2

    Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

    Habib R, Neitzel H, Ernst A, et al.

    Molecular cytogenetics 2018; (11()):17 doi:10.1186/s13039-018-0364-6.

    PMID: 29445421
  3. 3

    Effect of irradiation on DNA synthesis, NBN gene expression and chromosomal stability in cells with NBN mutations.

    Nowak J, Świątek-Kościelna B, Kałużna EM, et al.

    Archives of medical science : AMS 2017; (13(2)):283-292 doi:10.5114/aoms.2017.65452.

    PMID: 28261280
  4. 4

    Nijmegen breakage syndrome: case report and review of literature.

    Hasbaoui BE, Elyajouri A, Abilkassem R, Agadr A

    The Pan African medical journal 2020; (35()):85 doi:10.11604/pamj.2020.35.85.14746.

    PMID: 32537088
  5. 5

    Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

    Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, et al.

    Journal of clinical immunology 2015; (35(6)):538-49 doi:10.1007/s10875-015-0186-9.

    PMID: 26271390
  6. 6

    T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway.

    Piatosa B, Wolska-Kuśnierz B, Tkaczyk K, et al.

    Frontiers in immunology 2020; (11()):1319 doi:10.3389/fimmu.2020.01319.

    PMID: 32695108
  7. 7

    Generation of NBS1 knockout in Chinese hamster cells revealed ATR role for radiation and etoposide induced DNA damage in absence of NBS1 proteins.

    Badakul G, Maeda J, Kato TA

    Frontiers in oncology 2026; (16()):1776137 doi:10.3389/fonc.2026.1776137.

    PMID: 41959910
  8. 8

    Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

    Cakmak Genc G, Yilmaz B, Karakas Celik S, et al.

    Birth defects research 2024; (116(5)):e2346 doi:10.1002/bdr2.2346.

    PMID: 38761025
  9. 9

    Human RAD50 deficiency: Confirmation of a distinctive phenotype.

    Ragamin A, Yigit G, Bousset K, et al.

    American journal of medical genetics. Part A 2020; (182(6)):1378-1386 doi:10.1002/ajmg.a.61570.

    PMID: 32212377
  10. 10

    Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

    Nakano Y, Kuiper RP, Nichols KE, et al.

    Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(22)):5009-5020 doi:10.1158/1078-0432.CCR-24-1098.

    PMID: 39264246
  11. 11

    Children with a rare congenital genetic disorder: a systematic review of parent experiences.

    von der Lippe C, Neteland I, Feragen KB

    Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

    PMID: 36253830
  12. 12

    Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

    Davis C, Bogaert L, Powell J, Low K

    Journal of medical Internet research 2025; (27()):e77087 doi:10.2196/77087.

    PMID: 41313807
  13. 13

    Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.

    Nevin SM, Wakefield CE, Dadich A, et al.

    PEC innovation 2022; (1()):100014 doi:10.1016/j.pecinn.2021.100014.

    PMID: 37364015

This page provides general educational information about Nijmegen breakage syndrome and does not replace medical advice. Your child's genetics, immunology, and oncology team should guide radiation decisions, infection care, and cancer surveillance.

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