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

  • Author: Terry W Chin, MD, PhD; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: Mar 12, 2012
 

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.[15] 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.[16]

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.[17]

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.[5]

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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Contributor Information and Disclosures
Author

Terry W Chin, MD, PhD  Associate Director, Pediatric Allergy/Immunology/Pulmonology, Miller Children's Hospital, Long Beach Memorial Medical Center; Associate Professor, Department of Pediatrics, University of California, Irvine, School of Medicine

Terry W Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Thoracic Society, California Thoracic Society, Clinical Immunology Society, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Noufa Alonazi, MD  Allergy and Immunology Postdoctoral Fellow, Department of Pediatrics, Loma Linda University and Medical Center

Disclosure: Nothing to disclose.

Specialty Editor Board

Ann O'Neill Shigeoka, MD †  Former Clinical Associate Professor, Department of Pediatrics, Division of Immunology-Rheumatology, University of Utah School of Medicine

Ann O'Neill Shigeoka, MD † is a member of the following medical societies: American Federation for Medical Research, Clinical Immunology Society, Pediatric Infectious Diseases Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John Wilson Georgitis, MD  Consulting Staff, Lafayette Allergy Services

John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary, Allergy/Immunology, and Infectious Diseases, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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Telangiectasia.
Radiograph shows an 8-month-old boy who required ventilatory support for bilateral pneumonia and who received intravenous antibiotics. The patient recovered and returned home.
Chest radiograph in an 8-month-old boy 2 weeks after he was treated for bilateral pneumonia. The patient returned to the emergency department with a fever and breathing problems.
Chest radiograph in a 9-month-old boy. The patient developed breathing problems 1 month after recovering from a second hospitalization for pneumonia. By this time, serum immunoglobulin levels from the second hospitalization were in the patient's record and showed an immunoglobulin G level of 156 mg/dL and undetectable immunoglobulin A and immunoglobulin M levels. Subsequent bronchoscopy showed the presence of Pneumocystis carinii and cytomegalovirus.
Telangiectasia of conjunctivae.
A 5-year-old boy with thrush.
Table. Intravenous Immunoglobulin Therapy[21, 30, 31, 32]
Brand(Manufacturer)Manufacturing ProcesspHAdditives (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 ConcentrationsIgA Content mcg/mL
Carimune NF



(ZLB Behring)



Kistler-Nitschmann fractionation, pH 4, nanofiltration6.4-6.86% solution: 10% sucrose, < 20 mg NaCl/g proteinLyophilized powder 3%, 6%, 9%, 12%Trace
Flebogamma



(Grifols USA)



Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization5.1-6Sucrose free, contains 5% D-sorbitolLiquid 5%< 50
Gammagard Liquid 10%



(Baxter Bioscience)



Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation 4.6-5.10.25 M glycineReady-for-use liquid 10%37
Gammar-P IV



(ZLB Behring)



Cohn-Oncley fraction II/III, ultrafiltration, pasteurization6.4-7.25% solution: 5% sucrose, 3% albumin, 0.5% NaClLyophilized powder 5%< 20
Gamunex



(Talecris Biotherapeutics)



Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation4-4.5Contains no sugar, contains glycineLiquid 10%46
Gammaplex



(Bio Products)



Solvent/detergent treatment targeted to enveloped viruses; virus filtration using Pall Ultipor to remove small viruses including nonenveloped viruses; low pH incubation 4.8-5.1Contains sorbitol (40 mg/mL); do not administer if fructose intolerantReady-for-use solution 5%< 10
Iveegam EN



(Baxter Bioscience)



Cohn-Oncley fraction II/III, ultrafiltration, pasteurization6.4-7.25% solution: 5% glucose, 0.3% NaClLyophilized powder 5%< 10
Polygam S/D



Gammagard S/D



(Baxter Bioscience for the American Red Cross)



Cohn-Oncley cold ethanol fractionation, followed by ultra centrafiltration and ion exchange chromatography, solvent detergent treated 6.4-7.25% solution: 0.3% albumin, 2.25% glycine, 2% glucoseLyophilized powder 5%, 10%< 1.6 (5% solution)
Octagam



(Octapharma USA)



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 pasteurization5.1-610% maltoseLiquid 5%200
Panglobulin



(Swiss Red Cross for the American Red Cross)



Kistler-Nitschmann fractionation, pH 4, trace pepsin, nanofiltration6.6Per gram of IgG: 1.67 g sucrose, < 20 mg NaClLyophilized powder 3%, 6%, 9%, 12%720
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