B-Cell and T-Cell Combined Disorders Follow-up

Updated: Dec 11, 2018
  • Author: Terry W Chin, MD, PhD; Chief Editor: Harumi Jyonouchi, MD  more...
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Follow-up

Prognosis

Because the underlying immunodeficiency in patients with ataxia-telangiectasia (AT) widely varies, overall prognosis can vary. Approximately 10-15% develop malignancy in childhood, usually lymphoid tumors. However, other tumors, including brain tumors and certain carcinomas have also been seen in patients with AT. The role of ATM mutations in breast cancer is currently under intense investigation. [25] Similarly, the degree and extent of any associated autoimmune endocrinopathies in patients with chronic mucocutaneous candidiasis (CMC) widely varies and affects the prognosis.

Early detection of malignancy and aggressive treatment for sinopulmonary infections prolong survival. In AT, their chronic lung disease appear to be primarily interstitial and responsive only to systemic corticosteroids given early in the course. One case report detailed improvement of neurologic symptoms with systemic corticosteroids. [26]

The use of the conjugated pneumococcal vaccine may be of benefit because infections with Streptococcus pneumoniae is common. Some patients may benefit from intravenous immunoglobulin (IVIG). Some patients survive into adulthood. A 31-year-old individual is the oldest reported patient.

The median survival in two large cohorts of patients with AT is age 25 and 19 years, with a wide range. Life expectancy does not correlate well with severity of neurologic impairment. [27]

In CMC, survival into adulthood is common. However, early detection of associated endocrinopathies is critical. In addition, aggressive treatment for lower respiratory tract infections prevents morbidity due to the development of chronic lung disease. CMC has been associated with squamous cell carcinoma of the oral cavity or esophagus; endoscopic screening has been suggested for patients that develop symptoms of esophageal candidiasis and in those with a positive family history. [9]

Delayed diagnosis of AT or CMC may compromise the patient and family member care. Early diagnosis of AT alerts the physician to a possible immunodeficiency and the need to limit patients' exposure to ultraviolet light and diagnostic radiographs. Similarly, early diagnosis of CMC indicates the need to use effective antifungal medications and monitor for autoimmune disorders. Early diagnosis also provides an opportunity for requisite genetic counseling because of the genetic component of the disease.

Some recommend routinely testing serum alpha-fetoprotein (AFP) levels in all toddlers and children with undiagnosed chronic or progressive ataxia. CMC should be considered in any patient with persistent candidal infection.

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Patient Education

Families may benefit from social support organizations, such as the Immune Deficiency Foundation.

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