Table 6. [Recommended Surveillance for Individuals with Individuals with Nijmegen Breakage Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Constitutional	Monitor weight, length/height, & head circumference.	Monthly until age 1 yr; every 3-6 mos until age 2-3 yrs; annually thereafter
Immunology	Monitor types & frequency of infections. Absolute number of B cells, T cells, & T-cell subsets, w/special attention to naïve CD4+CD45RA cells Proliferative response of peripheral blood mononuclear cells to stimuli Concentration of total serum immunoglobulins (IgG, IgA, IgM) & IgG subclasses Eval for viruses w/lymphotropic capacity (i.e., EBV, CMV)	Eval of cellular immunity & proliferative response to mitogens or antigens every 12 mos Eval of humoral immunity parameters every 6 wks until age 1 yr, then every 3-6 mos (until IVIg therapy is started) Periodic quantitative monitoring of indicators of viral infections 1x/yr or when infection is suspected
Malignancy	Monitor for malignancy, particularly in those w/weight loss, fever, weakness, enlargement of peripheral lymph nodes, dyspnea, cough, &/or hepatosplenomegaly. Assessment should be considered using ultrasonography, MRI, biopsy.	Annually
Breast self-exam	Monthly in females when HRT is administered.
Endocrine	Monitor pubertal progression in females & males. Assess for premature ovarian insufficiency in females.
Neurodevelopment	Assess cognitive development & intellectual abilities.	Before starting school & repeated periodically to ensure educational support as needed

System/Concern

Evaluation

Frequency

Constitutional

Monitor weight, length/height, & head circumference.

Monthly until age 1 yr; every 3-6 mos until age 2-3 yrs; annually thereafter

Immunology

Monitor types & frequency of infections.
Absolute number of B cells, T cells, & T-cell subsets, w/special attention to naïve CD4+CD45RA cells
Proliferative response of peripheral blood mononuclear cells to stimuli
Concentration of total serum immunoglobulins (IgG, IgA, IgM) & IgG subclasses
Eval for viruses w/lymphotropic capacity (i.e., EBV, CMV)

Eval of cellular immunity & proliferative response to mitogens or antigens every 12 mos
Eval of humoral immunity parameters every 6 wks until age 1 yr, then every 3-6 mos (until IVIg therapy is started)
Periodic quantitative monitoring of indicators of viral infections 1x/yr or when infection is suspected

Malignancy

Monitor for malignancy, particularly in those w/weight loss, fever, weakness, enlargement of peripheral lymph nodes, dyspnea, cough, &/or hepatosplenomegaly.
Assessment should be considered using ultrasonography, MRI, biopsy.

Annually

Breast self-exam

Monthly in females when HRT is administered.

Endocrine

Monitor pubertal progression in females & males.
Assess for premature ovarian insufficiency in females.

Neurodevelopment

Assess cognitive development & intellectual abilities.

Before starting school & repeated periodically to ensure educational support as needed

From: Nijmegen Breakage Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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