B-Cell and T-Cell Combined Disorders Treatment & Management

Updated: Aug 08, 2019
  • Author: Terry W Chin, MD, PhD; Chief Editor: Harumi Jyonouchi, MD  more...
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Treatment

Medical Care

As with other immunodeficiencies, aggressive antibiotic administration and supportive care may prolong the patient's survival, though no current therapy cures ataxia-telangiectasia (AT). Careful observation for the early development of AT is indicated because patients with T-cell deficiency have an increased susceptibility to develop malignancies. Likewise, regular determination of serum autoantibody level and constant clinical evaluation for endocrinopathy (eg, hypoparathyroidism, hypoadrenalism, diabetes) is needed in patients with chronic mucocutaneous candidiasis (CMC).

Unlike other combined immunodeficiency syndromes, AT and CMC do not generally warrant gamma-globulin replacement therapy because of the marked variation in humoral immunodeficiency with the concomitant variable susceptibility to infections. On the other hand, an individual patient may benefit from such treatment. If a trial of intravenous immunoglobulin (IVIG) is considered in these patients, the dosage is 400-600 mg/kg every 2-4 weeks for 6 months. A high dosage is indicated in those with bronchiectasis. Monitor the patient's clinical response rather than specific serum immunoglobulin G (IgG) levels.

Bone marrow transplantation is difficult to justify because of potential adverse effects of cellular radiosensitivity in patients with AT. Transplantation is also unlikely to alter the progressive neurologic symptoms of the disease. The present authors know of no report of successful bone marrow transplantation in a patient with CMC.

The Primary Immune Deficiency Treatment Consortium analyzed the results of hematopoietic stem cell transplantation in children with SCID. [24] Researchers collected data from 240 infants who had received transplants at 25 centers from 2000-2009 and concluded that transplants from donors other than matched siblings resulted in high survival rates if the infants were identified before infection developed. Asymptomatic infants responded well to all graft sources. [25]

Use of thymic hormones (eg, thymosin) offers promise, but, to the author's knowledge, no clinical studies have been conducted.

Irradiation of cellular blood products is indicated in patients with AT and CMC to prevent transfusion-associated graft versus host disease.

Treatment of patients with AT who also have malignancies requires extremely careful planning and caution in the use of chemotherapy because of their increased chemosensitivity.

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Consultations

Because patients with AT and Nijmegen breakage syndrome (NBS) have an increased risk of developing malignancy, careful monitoring is required by a hematologist-oncologist. Because patients with CMC may be at risk of developing various endocrinopathies, careful monitoring is required by an endocrinologist. Thymoma may also develop in adulthood. Regular screening by a gastroenterologist has been suggested for patients with CMC with a history of recurrent candidal esophagus or a family history positive for esophageal or oral carcinoma.

Primary care physicians who are less experienced in interpreting results of immune function tests should refer patients to an immunologist.

Refer parents of children with AT and CMC to a genetic counselor because they are at risk for affected additional offspring.

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Diet

The poor growth in patients with AT and NBS has not been shown to respond to nutritional intervention.

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Activity

Because of the increased sensitivity to radiation in patients with AT or NBS, advise these patients to avoid excessive sun exposure and to use sunscreens when outdoors.

The typical patient with AT usually requires a wheelchair for mobility by early teenage years.

For patients with CMC, good oral hygiene and aggressive treatment of oral and esophageal candidiasis are needed.

Avoidance of additional risk factors for oral and esophageal cancer such as cigarette smoking and excessive alcohol consumption may also be warranted.

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