B-Cell and T-Cell Combined Disorders Follow-up
- Author: Terry W Chin, MD, PhD; Chief Editor: Harumi Jyonouchi, MD more...
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. 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.
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.
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.
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.
Families may benefit from social support organizations, such as the Immune Deficiency Foundation.
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|Brand(Manufacturer)||Manufacturing Process||pH||Additives (IVIG products containing sucrose are more often associated with renal dysfunction, acute renal failure, and osmotic nephrosis, particularly with preexisting risk factors [eg, history of renal insufficiency, diabetes mellitus, age >65 y, dehydration, sepsis, paraproteinemia, nephrotoxic drugs].)||Parenteral Form and Final Concentrations||IgA Content mcg/mL|
|Kistler-Nitschmann fractionation, pH 4, nanofiltration||6.4-6.8||6% solution: 10% sucrose, < 20 mg NaCl/g protein||Lyophilized powder 3%, 6%, 9%, 12%||Trace|
|Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization||5.1-6||Sucrose free, contains 5% D-sorbitol||Liquid 5%||< 50|
|Gammagard Liquid 10%
|Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation||4.6-5.1||0.25 M glycine||Ready-for-use liquid 10%||37|
|Cohn-Oncley fraction II/III, ultrafiltration, pasteurization||6.4-7.2||5% solution: 5% sucrose, 3% albumin, 0.5% NaCl||Lyophilized powder 5%||< 20|
|Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation||4-4.5||Contains no sugar, contains glycine||Liquid 10%||46|
|Solvent/detergent treatment targeted to enveloped viruses; virus filtration using Pall Ultipor to remove small viruses including nonenveloped viruses; low pH incubation||4.8-5.1||Contains sorbitol (40 mg/mL); do not administer if fructose intolerant||Ready-for-use solution 5%||< 10|
|Cohn-Oncley fraction II/III, ultrafiltration, pasteurization||6.4-7.2||5% solution: 5% glucose, 0.3% NaCl||Lyophilized powder 5%||< 10|
(Baxter Bioscience for the American Red Cross)
|Cohn-Oncley cold ethanol fractionation, followed by ultra centrafiltration and ion exchange chromatography, solvent detergent treated||6.4-7.2||5% solution: 0.3% albumin, 2.25% glycine, 2% glucose||Lyophilized powder 5%, 10%||< 1.6 (5% solution)|
9/24/10: Withdrawn from market because of unexplained reports of thromboembolic events
|Cohn-Oncley fraction II/III, ultrafiltration, low pH incubation, S/D treatment pasteurization||5.1-6||10% maltose||Liquid 5%||200|
(Swiss Red Cross for the American Red Cross)
|Kistler-Nitschmann fractionation, pH 4, trace pepsin, nanofiltration||6.6||Per gram of IgG: 1.67 g sucrose, < 20 mg NaCl||Lyophilized powder 3%, 6%, 9%, 12%||720|