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Short stature, unusually small head size, distinctive facial features, recurrent respiratory tract infections, an elevated risk of cancer, intellectual impairment, and other health conditions are typical of Nijmegen breakage syndrome. The head does not expand at the same rate as the rest of the body, so it appears that the head is getting smaller as the body increases. Individuals with Nijmegen breakage syndrome have distinctive facial features such as a sloping forehead, a prominent nose, large ears, a small jaw, and eyelids that point upward. People with Nijmegen fracture syndrome have a faulty immune system that has abnormally low levels of immune system proteins called immunoglobulin G and immunoglobulin A. T cells, which are also affected by the immune system's cell death, are also in need of immune system cells. Individuals with Nijmegen breakage syndrome are at an elevated risk of developing cancer, most commonly a non-Hodgkin lymphoma tumor of immune system cells. About half of people with Nijmegen breakage syndrome experience non-Hodgkin lymphoma, most before age 15. Brain tumors such as medulloblastoma and glioma can also be seen in people with Nijmegen breakage syndrome, as well as a muscle tissue cancer called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 percent more likely to experience cancer than those without the condition. Most affected women have premature ovarian failure and do not begin menstruation until age 16, and have irregular menstrual cycles. Most women with Nijmegen breakage syndrome are unable to have biological children.
People with XLA have a limited number of B cells, which are specialized white blood cells that help prevent the body from infection. B cells can mature into those that produce special proteins called antibodies or immunoglobulins. Individuals with XLA are more vulnerable to infections because their body has very few antibodies. Children with XLA are generally healthy for the first 1 to 2 months of life because they are shielded by antibodies that were not present before birth from their mother's. In children with XLA, infections usually take longer to get better and then they return to normal, often with antibiotic medications. The most common bacterial infections that occur in people with XLA include lung infections, ear infections, pink eye, and sinus infections. Chronic diarrhea infections are also common.
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